esv3977022
- Organism: Homo sapiens
- Study:estd229 (Fakhro et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,701
- Publication(s):Fakhro et al. 2015
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: 236 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 57 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
esv3977022 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 16,505,156 | 16,516,856 |
esv3977022 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 16,831,651 | 16,843,351 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv25925617 | duplication | DGMQ-32044 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,484 |
essv25934566 | duplication | DGMQ-31489 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,736 |
essv26027748 | duplication | DGMQ-31641 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,638 |
essv25915004 | duplication | DGMQ-31643 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,512 |
essv26012336 | duplication | DGMQ-32285 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,598 |
essv25913246 | duplication | DGMQ-32311 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,571 |
essv25922043 | duplication | DGMQ-31244 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,657 |
essv25923874 | duplication | DGMQ-31036 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,631 |
essv25996471 | duplication | DGMQ-32059 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,514 |
essv25932722 | duplication | DGMQ-32251 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,647 |
essv25947045 | duplication | DGMQ-32309 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,760 |
essv25920085 | duplication | DGMQ-31583 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,709 |
essv25918412 | duplication | DGMQ-32291 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,453 |
essv25906650 | duplication | DGMQ-31425 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,581 |
essv25930844 | duplication | DGMQ-32220 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,685 |
essv25894151 | duplication | DGMQ-31058 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,740 |
essv25927311 | duplication | DGMQ-32160 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,682 |
essv25980650 | duplication | DGMQ-32060 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,610 |
essv25929134 | duplication | DGMQ-32371 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,493 |
essv25916742 | duplication | DGMQ-31406 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,602 |
essv25906661 | duplication | DGMQ-31425 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,581 |
essv25925618 | duplication | DGMQ-32044 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,484 |
essv25934567 | duplication | DGMQ-31489 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,736 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv25925617 | Remapped | Perfect | NC_000001.11:g.(16 505156_?)_(?_16510 806)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,505,156 | 16,510,806 |
essv25934566 | Remapped | Perfect | NC_000001.11:g.(16 505156_?)_(?_16510 806)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,505,156 | 16,510,806 |
essv26027748 | Remapped | Perfect | NC_000001.11:g.(16 505156_?)_(?_16516 456)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,505,156 | 16,516,456 |
essv25915004 | Remapped | Perfect | NC_000001.11:g.(16 505156_?)_(?_16516 556)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,505,156 | 16,516,556 |
essv26012336 | Remapped | Perfect | NC_000001.11:g.(16 505806_?)_(?_16516 356)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,505,806 | 16,516,356 |
essv25913246 | Remapped | Perfect | NC_000001.11:g.(16 505956_?)_(?_16516 356)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,505,956 | 16,516,356 |
essv25922043 | Remapped | Perfect | NC_000001.11:g.(16 505956_?)_(?_16516 356)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,505,956 | 16,516,356 |
essv25923874 | Remapped | Perfect | NC_000001.11:g.(16 505956_?)_(?_16516 356)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,505,956 | 16,516,356 |
essv25996471 | Remapped | Perfect | NC_000001.11:g.(16 505956_?)_(?_16516 456)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,505,956 | 16,516,456 |
essv25932722 | Remapped | Perfect | NC_000001.11:g.(16 505956_?)_(?_16516 856)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,505,956 | 16,516,856 |
essv25947045 | Remapped | Perfect | NC_000001.11:g.(16 505956_?)_(?_16516 856)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,505,956 | 16,516,856 |
essv25920085 | Remapped | Perfect | NC_000001.11:g.(16 506006_?)_(?_16515 506)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,506,006 | 16,515,506 |
essv25918412 | Remapped | Perfect | NC_000001.11:g.(16 506006_?)_(?_16516 856)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,506,006 | 16,516,856 |
essv25906650 | Remapped | Perfect | NC_000001.11:g.(16 506656_?)_(?_16510 806)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,506,656 | 16,510,806 |
essv25930844 | Remapped | Perfect | NC_000001.11:g.(16 506656_?)_(?_16516 456)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,506,656 | 16,516,456 |
essv25894151 | Remapped | Perfect | NC_000001.11:g.(16 506656_?)_(?_16516 606)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,506,656 | 16,516,606 |
essv25927311 | Remapped | Perfect | NC_000001.11:g.(16 506706_?)_(?_16516 606)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,506,706 | 16,516,606 |
essv25980650 | Remapped | Perfect | NC_000001.11:g.(16 506706_?)_(?_16516 606)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,506,706 | 16,516,606 |
essv25929134 | Remapped | Perfect | NC_000001.11:g.(16 506706_?)_(?_16516 856)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,506,706 | 16,516,856 |
essv25916742 | Remapped | Perfect | NC_000001.11:g.(16 506756_?)_(?_16516 406)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,506,756 | 16,516,406 |
essv25906661 | Remapped | Perfect | NC_000001.11:g.(16 510856_?)_(?_16516 456)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,510,856 | 16,516,456 |
essv25925618 | Remapped | Perfect | NC_000001.11:g.(16 510856_?)_(?_16516 456)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,510,856 | 16,516,456 |
essv25934567 | Remapped | Perfect | NC_000001.11:g.(16 510856_?)_(?_16516 456)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,510,856 | 16,516,456 |
essv25925617 | Submitted genomic | NC_000001.10:g.(16 831651_?)_(?_16837 301)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,831,651 | 16,837,301 | ||
essv25934566 | Submitted genomic | NC_000001.10:g.(16 831651_?)_(?_16837 301)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,831,651 | 16,837,301 | ||
essv26027748 | Submitted genomic | NC_000001.10:g.(16 831651_?)_(?_16842 951)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,831,651 | 16,842,951 | ||
essv25915004 | Submitted genomic | NC_000001.10:g.(16 831651_?)_(?_16843 051)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,831,651 | 16,843,051 | ||
essv26012336 | Submitted genomic | NC_000001.10:g.(16 832301_?)_(?_16842 851)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,832,301 | 16,842,851 | ||
essv25913246 | Submitted genomic | NC_000001.10:g.(16 832451_?)_(?_16842 851)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,832,451 | 16,842,851 | ||
essv25922043 | Submitted genomic | NC_000001.10:g.(16 832451_?)_(?_16842 851)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,832,451 | 16,842,851 | ||
essv25923874 | Submitted genomic | NC_000001.10:g.(16 832451_?)_(?_16842 851)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,832,451 | 16,842,851 | ||
essv25996471 | Submitted genomic | NC_000001.10:g.(16 832451_?)_(?_16842 951)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,832,451 | 16,842,951 | ||
essv25932722 | Submitted genomic | NC_000001.10:g.(16 832451_?)_(?_16843 351)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,832,451 | 16,843,351 | ||
essv25947045 | Submitted genomic | NC_000001.10:g.(16 832451_?)_(?_16843 351)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,832,451 | 16,843,351 | ||
essv25920085 | Submitted genomic | NC_000001.10:g.(16 832501_?)_(?_16842 001)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,832,501 | 16,842,001 | ||
essv25918412 | Submitted genomic | NC_000001.10:g.(16 832501_?)_(?_16843 351)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,832,501 | 16,843,351 | ||
essv25906650 | Submitted genomic | NC_000001.10:g.(16 833151_?)_(?_16837 301)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,833,151 | 16,837,301 | ||
essv25930844 | Submitted genomic | NC_000001.10:g.(16 833151_?)_(?_16842 951)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,833,151 | 16,842,951 | ||
essv25894151 | Submitted genomic | NC_000001.10:g.(16 833151_?)_(?_16843 101)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,833,151 | 16,843,101 | ||
essv25927311 | Submitted genomic | NC_000001.10:g.(16 833201_?)_(?_16843 101)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,833,201 | 16,843,101 | ||
essv25980650 | Submitted genomic | NC_000001.10:g.(16 833201_?)_(?_16843 101)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,833,201 | 16,843,101 | ||
essv25929134 | Submitted genomic | NC_000001.10:g.(16 833201_?)_(?_16843 351)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,833,201 | 16,843,351 | ||
essv25916742 | Submitted genomic | NC_000001.10:g.(16 833251_?)_(?_16842 901)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,833,251 | 16,842,901 | ||
essv25906661 | Submitted genomic | NC_000001.10:g.(16 837351_?)_(?_16842 951)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,837,351 | 16,842,951 | ||
essv25925618 | Submitted genomic | NC_000001.10:g.(16 837351_?)_(?_16842 951)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,837,351 | 16,842,951 | ||
essv25934567 | Submitted genomic | NC_000001.10:g.(16 837351_?)_(?_16842 951)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,837,351 | 16,842,951 |