esv2671289
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:77
- Validation:Yes
- Clinical Assertions: No
- Region Size:1,148
- Publication(s):1000 Genomes Project Consortium et al. 2012
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 232 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 232 SVs from 34 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv2671289 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
esv2671289 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv5428265 | deletion | SAMN00006474 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,703 |
essv5454190 | deletion | SAMN00006445 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,718 |
essv5456726 | deletion | SAMN00006498 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,657 |
essv5471076 | deletion | SAMN00006546 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
essv5478070 | deletion | SAMN00006526 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,211 |
essv5483136 | deletion | SAMN00006513 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,611 |
essv5492618 | deletion | SAMN00006547 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
essv5513178 | deletion | SAMN00006565 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,730 |
essv5526994 | deletion | SAMN00006447 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,673 |
essv5560921 | deletion | SAMN00006564 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,702 |
essv5565560 | deletion | SAMN00006514 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,671 |
essv5572411 | deletion | SAMN00006460 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,601 |
essv5572616 | deletion | SAMN00004695 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,646 |
essv5585022 | deletion | SAMN00006475 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,638 |
essv5610063 | deletion | SAMN00006522 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,660 |
essv5636319 | deletion | SAMN00006481 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,764 |
essv5652934 | deletion | SAMN00006477 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,675 |
essv5669102 | deletion | SAMN00006466 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,824 |
essv5675089 | deletion | SAMN00006502 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,731 |
essv5678341 | deletion | SAMN00006571 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,708 |
essv5680443 | deletion | SAMN00006456 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,686 |
essv5687827 | deletion | SAMN00006541 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,690 |
essv5690283 | deletion | SAMN00006559 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
essv5705120 | deletion | SAMN00006519 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,739 |
essv5731105 | deletion | SAMN00004696 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,778 |
essv5758428 | deletion | SAMN00006504 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
essv5763953 | deletion | SAMN00006556 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,746 |
essv5776738 | deletion | SAMN00006448 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,788 |
essv5800736 | deletion | SAMN00006465 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,713 |
essv5801956 | deletion | SAMN00006520 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,720 |
essv5829496 | deletion | SAMN00006505 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,623 |
essv5842180 | deletion | SAMN00006567 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,712 |
essv5859589 | deletion | SAMN00006453 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,472 |
essv5864212 | deletion | SAMN00006568 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,726 |
essv5870744 | deletion | SAMN00006529 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,277 |
essv5872061 | deletion | SAMN00006549 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,666 |
essv5909343 | deletion | SAMN00006540 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,711 |
essv5939631 | deletion | SAMN00006487 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,553 |
essv5954323 | deletion | SAMN00006558 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,756 |
essv5969114 | deletion | SAMN00006442 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,722 |
essv5972848 | deletion | SAMN00006457 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,574 |
essv6004364 | deletion | SAMN00006555 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,653 |
essv6012616 | deletion | SAMN00006439 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,754 |
essv6025666 | deletion | SAMN00006454 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,600 |
essv6041748 | deletion | SAMN00006501 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,714 |
essv6042391 | deletion | SAMN00006510 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,195 |
essv6042489 | deletion | SAMN00006438 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,799 |
essv6102807 | deletion | SAMN00006480 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,600 |
essv6111029 | deletion | SAMN00006459 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,568 |
essv6139167 | deletion | SAMN00006570 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,706 |
essv6163283 | deletion | SAMN00006562 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
essv6167083 | deletion | SAMN00006511 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,159 |
essv6167955 | deletion | SAMN00006561 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,714 |
essv6172645 | deletion | SAMN00006468 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,653 |
essv6197958 | deletion | SAMN00006552 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
essv6206474 | deletion | SAMN00004684 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,754 |
essv6213287 | deletion | SAMN00006463 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,668 |
essv6236756 | deletion | SAMN00004683 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,782 |
essv6242194 | deletion | SAMN00006490 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,074 |
essv6264175 | deletion | SAMN00006573 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,689 |
essv6299642 | deletion | SAMN00006462 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,778 |
essv6306502 | deletion | SAMN00006574 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,770 |
essv6309063 | deletion | SAMN00006469 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,602 |
essv6321243 | deletion | SAMN00006499 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,734 |
essv6355285 | deletion | SAMN00006486 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,453 |
essv6424669 | deletion | SAMN00006444 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,678 |
essv6431458 | deletion | SAMN00006525 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,128 |
essv6432692 | deletion | SAMN00006478 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,718 |
essv6433945 | deletion | SAMN00004689 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,655 |
essv6437562 | deletion | SAMN00006544 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,696 |
essv6461680 | deletion | SAMN00006550 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,705 |
essv6484564 | deletion | SAMN00006553 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,677 |
essv6497921 | deletion | SAMN00006543 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
essv6551649 | deletion | SAMN00006523 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,722 |
essv6570736 | deletion | SAMN00006441 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,777 |
essv6572443 | deletion | SAMN00006471 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,344 |
essv6576206 | deletion | SAMN00004690 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,700 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv5428265 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5454190 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5456726 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5471076 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5478070 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5483136 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5492618 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5513178 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5526994 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5560921 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5565560 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5572411 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5572616 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5585022 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5610063 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5636319 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5652934 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5669102 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5675089 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5678341 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5680443 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5687827 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5690283 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5705120 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5731105 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5758428 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5763953 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5776738 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5800736 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5801956 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5829496 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5842180 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5859589 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5864212 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5870744 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5872061 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5909343 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5939631 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5954323 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5969114 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5972848 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6004364 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6012616 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6025666 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6041748 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6042391 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6042489 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6102807 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6111029 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6139167 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6163283 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6167083 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6167955 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6172645 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6197958 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6206474 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6213287 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6236756 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6242194 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6264175 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6299642 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6306502 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6309063 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6321243 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6355285 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6424669 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6431458 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6432692 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6433945 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6437562 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6461680 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6484564 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6497921 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6551649 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6570736 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6572443 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv6576206 | Remapped | Perfect | NC_000008.11:g.(30 677728_30678099)_( 30678505_30678875) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 30,677,728 | 30,678,099 | 30,678,505 | 30,678,875 |
essv5428265 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5454190 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5456726 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5471076 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5478070 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5483136 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5492618 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5513178 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5526994 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5560921 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5565560 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5572411 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5572616 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5585022 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5610063 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5636319 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5652934 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5669102 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5675089 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5678341 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5680443 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5687827 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 | ||
essv5690283 | Submitted genomic | NC_000008.10:g.(30 535245_30535616)_( 30536022_30536392) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 30,535,245 | 30,535,616 | 30,536,022 | 30,536,392 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv6236756 | 7 | SAMN00004683 | SNP array | Probe signal intensity | Pass |
essv6206474 | 7 | SAMN00004684 | SNP array | Probe signal intensity | Pass |
essv6433945 | 7 | SAMN00004689 | SNP array | Probe signal intensity | Pass |
essv6576206 | 7 | SAMN00004690 | SNP array | Probe signal intensity | Pass |
essv5572616 | 7 | SAMN00004695 | SNP array | Probe signal intensity | Pass |
essv5731105 | 7 | SAMN00004696 | SNP array | Probe signal intensity | Pass |
essv6042489 | 7 | SAMN00006438 | SNP array | Probe signal intensity | Pass |
essv6012616 | 7 | SAMN00006439 | SNP array | Probe signal intensity | Pass |
essv6570736 | 7 | SAMN00006441 | SNP array | Probe signal intensity | Pass |
essv5969114 | 7 | SAMN00006442 | SNP array | Probe signal intensity | Pass |
essv6424669 | 7 | SAMN00006444 | SNP array | Probe signal intensity | Pass |
essv5454190 | 7 | SAMN00006445 | SNP array | Probe signal intensity | Pass |
essv5526994 | 7 | SAMN00006447 | SNP array | Probe signal intensity | Pass |
essv5776738 | 7 | SAMN00006448 | SNP array | Probe signal intensity | Pass |
essv5859589 | 7 | SAMN00006453 | SNP array | Probe signal intensity | Pass |
essv6025666 | 7 | SAMN00006454 | SNP array | Probe signal intensity | Pass |
essv5680443 | 7 | SAMN00006456 | SNP array | Probe signal intensity | Pass |
essv5972848 | 7 | SAMN00006457 | SNP array | Probe signal intensity | Pass |
essv6111029 | 7 | SAMN00006459 | SNP array | Probe signal intensity | Pass |
essv5572411 | 7 | SAMN00006460 | SNP array | Probe signal intensity | Pass |
essv6299642 | 7 | SAMN00006462 | SNP array | Probe signal intensity | Pass |
essv6213287 | 7 | SAMN00006463 | SNP array | Probe signal intensity | Pass |
essv5800736 | 7 | SAMN00006465 | SNP array | Probe signal intensity | Pass |
essv5669102 | 7 | SAMN00006466 | SNP array | Probe signal intensity | Pass |
essv6172645 | 7 | SAMN00006468 | SNP array | Probe signal intensity | Pass |
essv6309063 | 7 | SAMN00006469 | SNP array | Probe signal intensity | Pass |
essv6572443 | 7 | SAMN00006471 | SNP array | Probe signal intensity | Pass |
essv5428265 | 7 | SAMN00006474 | SNP array | Probe signal intensity | Pass |
essv5585022 | 7 | SAMN00006475 | SNP array | Probe signal intensity | Pass |
essv5652934 | 7 | SAMN00006477 | SNP array | Probe signal intensity | Pass |
essv6432692 | 7 | SAMN00006478 | SNP array | Probe signal intensity | Pass |
essv6102807 | 7 | SAMN00006480 | SNP array | Probe signal intensity | Pass |
essv5636319 | 7 | SAMN00006481 | SNP array | Probe signal intensity | Pass |
essv6355285 | 7 | SAMN00006486 | SNP array | Probe signal intensity | Pass |
essv5939631 | 7 | SAMN00006487 | SNP array | Probe signal intensity | Pass |
essv6242194 | 7 | SAMN00006490 | SNP array | Probe signal intensity | Pass |
essv5456726 | 7 | SAMN00006498 | SNP array | Probe signal intensity | Pass |
essv6321243 | 7 | SAMN00006499 | SNP array | Probe signal intensity | Pass |
essv6041748 | 7 | SAMN00006501 | SNP array | Probe signal intensity | Pass |
essv5675089 | 7 | SAMN00006502 | SNP array | Probe signal intensity | Pass |
essv5758428 | 7 | SAMN00006504 | SNP array | Probe signal intensity | Pass |
essv5829496 | 7 | SAMN00006505 | SNP array | Probe signal intensity | Pass |
essv6042391 | 7 | SAMN00006510 | SNP array | Probe signal intensity | Pass |
essv6167083 | 7 | SAMN00006511 | SNP array | Probe signal intensity | Pass |
essv5483136 | 7 | SAMN00006513 | SNP array | Probe signal intensity | Pass |
essv5565560 | 7 | SAMN00006514 | SNP array | Probe signal intensity | Pass |
essv5705120 | 7 | SAMN00006519 | SNP array | Probe signal intensity | Pass |
essv5801956 | 7 | SAMN00006520 | SNP array | Probe signal intensity | Pass |
essv5610063 | 7 | SAMN00006522 | SNP array | Probe signal intensity | Pass |
essv6551649 | 7 | SAMN00006523 | SNP array | Probe signal intensity | Pass |
essv6431458 | 7 | SAMN00006525 | SNP array | Probe signal intensity | Pass |
essv5478070 | 7 | SAMN00006526 | SNP array | Probe signal intensity | Pass |
essv5870744 | 7 | SAMN00006529 | SNP array | Probe signal intensity | Pass |
essv5909343 | 7 | SAMN00006540 | SNP array | Probe signal intensity | Pass |
essv5687827 | 7 | SAMN00006541 | SNP array | Probe signal intensity | Pass |
essv6497921 | 7 | SAMN00006543 | SNP array | Probe signal intensity | Pass |
essv6437562 | 7 | SAMN00006544 | SNP array | Probe signal intensity | Pass |
essv5471076 | 7 | SAMN00006546 | SNP array | Probe signal intensity | Pass |
essv5492618 | 7 | SAMN00006547 | SNP array | Probe signal intensity | Pass |
essv5872061 | 7 | SAMN00006549 | SNP array | Probe signal intensity | Pass |
essv6461680 | 7 | SAMN00006550 | SNP array | Probe signal intensity | Pass |
essv6197958 | 7 | SAMN00006552 | SNP array | Probe signal intensity | Pass |
essv6484564 | 7 | SAMN00006553 | SNP array | Probe signal intensity | Pass |
essv6004364 | 7 | SAMN00006555 | SNP array | Probe signal intensity | Pass |
essv5763953 | 7 | SAMN00006556 | SNP array | Probe signal intensity | Pass |
essv5954323 | 7 | SAMN00006558 | SNP array | Probe signal intensity | Pass |
essv5690283 | 7 | SAMN00006559 | SNP array | Probe signal intensity | Pass |
essv6167955 | 7 | SAMN00006561 | SNP array | Probe signal intensity | Pass |
essv6163283 | 7 | SAMN00006562 | SNP array | Probe signal intensity | Pass |
essv5560921 | 7 | SAMN00006564 | SNP array | Probe signal intensity | Pass |
essv5513178 | 7 | SAMN00006565 | SNP array | Probe signal intensity | Pass |
essv5842180 | 7 | SAMN00006567 | SNP array | Probe signal intensity | Pass |
essv5864212 | 7 | SAMN00006568 | SNP array | Probe signal intensity | Pass |
essv6139167 | 7 | SAMN00006570 | SNP array | Probe signal intensity | Pass |
essv5678341 | 7 | SAMN00006571 | SNP array | Probe signal intensity | Pass |
essv6264175 | 7 | SAMN00006573 | SNP array | Probe signal intensity | Pass |
essv6306502 | 7 | SAMN00006574 | SNP array | Probe signal intensity | Pass |