esv2743900
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:498
- Publication(s):Wong et al. 2013
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: 217 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 48 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2743900 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,148,097 | 1,148,594 |
| esv2743900 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,398 | 216,895 |
| esv2743900 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,566 | 138,009 |
| esv2743900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,142,005 | 1,142,502 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6823433 | deletion | SSM079 | Sequencing | Paired-end mapping | 3,423 |
| essv6834711 | deletion | SSM082 | Sequencing | Paired-end mapping | 3,227 |
| essv6770076 | deletion | SSM008 | Sequencing | Paired-end mapping | 3,261 |
| essv6791659 | deletion | SSM070 | Sequencing | Paired-end mapping | 3,746 |
| essv6681404 | deletion | SSM033 | Sequencing | Paired-end mapping | 3,319 |
| essv6771878 | deletion | SSM065 | Sequencing | Paired-end mapping | 3,542 |
| essv6940120 | deletion | SSM022 | Sequencing | Paired-end mapping | 3,696 |
| essv6731923 | deletion | SSM047 | Sequencing | Paired-end mapping | 3,502 |
| essv6768349 | deletion | SSM064 | Sequencing | Paired-end mapping | 2,654 |
| essv6924139 | deletion | SSM018 | Sequencing | Paired-end mapping | 3,574 |
| essv6919966 | deletion | SSM017 | Sequencing | Paired-end mapping | 3,873 |
| essv6897532 | deletion | SSM012 | Sequencing | Paired-end mapping | 3,093 |
| essv6783366 | deletion | SSM068 | Sequencing | Paired-end mapping | 3,722 |
| essv6724306 | deletion | SSM045 | Sequencing | Paired-end mapping | 3,460 |
| essv6937351 | deletion | SSM003 | Sequencing | Paired-end mapping | 3,014 |
| essv6775539 | deletion | SSM066 | Sequencing | Paired-end mapping | 3,133 |
| essv6904728 | deletion | SSM013 | Sequencing | Paired-end mapping | 3,240 |
| essv6827500 | deletion | SSM080 | Sequencing | Paired-end mapping | 3,623 |
| essv6965464 | deletion | SSM027 | Sequencing | Paired-end mapping | 5,772 |
| essv6856894 | deletion | SSM087 | Sequencing | Paired-end mapping | 5,379 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6823433 | Remapped | Perfect | NT_187681.1:g.(216 398_?)_(?_216882)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,398 | 216,882 |
| essv6834711 | Remapped | Perfect | NT_187681.1:g.(216 398_?)_(?_216895)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,398 | 216,895 |
| essv6770076 | Remapped | Perfect | NT_187681.1:g.(216 400_?)_(?_216916)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,400 | 216,916 |
| essv6791659 | Remapped | Perfect | NT_187681.1:g.(216 413_?)_(?_216837)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,413 | 216,837 |
| essv6681404 | Remapped | Perfect | NT_187681.1:g.(216 413_?)_(?_216924)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,413 | 216,924 |
| essv6771878 | Remapped | Perfect | NT_187681.1:g.(216 420_?)_(?_216910)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,420 | 216,910 |
| essv6940120 | Remapped | Perfect | NT_187681.1:g.(216 425_?)_(?_217031)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,425 | 217,031 |
| essv6731923 | Remapped | Perfect | NT_187681.1:g.(216 428_?)_(?_216887)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,428 | 216,887 |
| essv6768349 | Remapped | Perfect | NT_187681.1:g.(216 432_?)_(?_216924)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,432 | 216,924 |
| essv6924139 | Remapped | Perfect | NT_187681.1:g.(216 441_?)_(?_216895)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,441 | 216,895 |
| essv6919966 | Remapped | Perfect | NT_187681.1:g.(216 442_?)_(?_216920)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,442 | 216,920 |
| essv6897532 | Remapped | Perfect | NT_187681.1:g.(216 442_?)_(?_217013)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,442 | 217,013 |
| essv6783366 | Remapped | Perfect | NT_187681.1:g.(216 447_?)_(?_216926)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,447 | 216,926 |
| essv6724306 | Remapped | Perfect | NT_187681.1:g.(216 451_?)_(?_216888)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,451 | 216,888 |
| essv6937351 | Remapped | Perfect | NT_187681.1:g.(216 452_?)_(?_216896)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,452 | 216,896 |
| essv6775539 | Remapped | Perfect | NT_187681.1:g.(216 536_?)_(?_216764)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,536 | 216,764 |
| essv6904728 | Remapped | Perfect | NT_187681.1:g.(216 542_?)_(?_216996)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,542 | 216,996 |
| essv6827500 | Remapped | Perfect | NT_187681.1:g.(216 555_?)_(?_216861)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,555 | 216,861 |
| essv6965464 | Remapped | Perfect | NT_187681.1:g.(216 624_?)_(?_216762)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,624 | 216,762 |
| essv6856894 | Remapped | Perfect | NT_187681.1:g.(216 659_?)_(?_216711)d el | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 216,659 | 216,711 |
| essv6823433 | Remapped | Pass | NW_015148966.1:g.( 137566_?)_(?_13799 6)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,566 | 137,996 |
| essv6834711 | Remapped | Pass | NW_015148966.1:g.( 137566_?)_(?_13800 9)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,566 | 138,009 |
| essv6770076 | Remapped | Pass | NW_015148966.1:g.( 137568_?)_(?_13803 0)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,568 | 138,030 |
| essv6791659 | Remapped | Pass | NW_015148966.1:g.( 137581_?)_(?_13795 1)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,581 | 137,951 |
| essv6681404 | Remapped | Pass | NW_015148966.1:g.( 137581_?)_(?_13803 8)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,581 | 138,038 |
| essv6771878 | Remapped | Pass | NW_015148966.1:g.( 137588_?)_(?_13802 4)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,588 | 138,024 |
| essv6940120 | Remapped | Pass | NW_015148966.1:g.( 137593_?)_(?_13814 5)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,593 | 138,145 |
| essv6731923 | Remapped | Pass | NW_015148966.1:g.( 137596_?)_(?_13800 1)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,596 | 138,001 |
| essv6768349 | Remapped | Pass | NW_015148966.1:g.( 137600_?)_(?_13803 8)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,600 | 138,038 |
| essv6924139 | Remapped | Pass | NW_015148966.1:g.( 137609_?)_(?_13800 9)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,609 | 138,009 |
| essv6919966 | Remapped | Pass | NW_015148966.1:g.( 137610_?)_(?_13803 4)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,610 | 138,034 |
| essv6897532 | Remapped | Pass | NW_015148966.1:g.( 137610_?)_(?_13812 7)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,610 | 138,127 |
| essv6783366 | Remapped | Pass | NW_015148966.1:g.( 137615_?)_(?_13804 0)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,615 | 138,040 |
| essv6724306 | Remapped | Pass | NW_015148966.1:g.( 137619_?)_(?_13800 2)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,619 | 138,002 |
| essv6937351 | Remapped | Pass | NW_015148966.1:g.( 137620_?)_(?_13801 0)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,620 | 138,010 |
| essv6775539 | Remapped | Perfect | NW_015148966.1:g.( 137650_?)_(?_13787 8)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,650 | 137,878 |
| essv6904728 | Remapped | Perfect | NW_015148966.1:g.( 137656_?)_(?_13811 0)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,656 | 138,110 |
| essv6827500 | Remapped | Perfect | NW_015148966.1:g.( 137669_?)_(?_13797 5)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,669 | 137,975 |
| essv6965464 | Remapped | Perfect | NW_015148966.1:g.( 137738_?)_(?_13787 6)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,738 | 137,876 |
| essv6856894 | Remapped | Perfect | NW_015148966.1:g.( 137773_?)_(?_13782 5)del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 137,773 | 137,825 |
| essv6823433 | Remapped | Perfect | NC_000011.10:g.(11 48097_?)_(?_114858 1)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,097 | 1,148,581 |
| essv6834711 | Remapped | Perfect | NC_000011.10:g.(11 48097_?)_(?_114859 4)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,097 | 1,148,594 |
| essv6770076 | Remapped | Perfect | NC_000011.10:g.(11 48099_?)_(?_114861 5)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,099 | 1,148,615 |
| essv6791659 | Remapped | Perfect | NC_000011.10:g.(11 48112_?)_(?_114853 6)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,112 | 1,148,536 |
| essv6681404 | Remapped | Perfect | NC_000011.10:g.(11 48112_?)_(?_114862 3)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,112 | 1,148,623 |
| essv6771878 | Remapped | Perfect | NC_000011.10:g.(11 48119_?)_(?_114860 9)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,119 | 1,148,609 |
| essv6940120 | Remapped | Perfect | NC_000011.10:g.(11 48124_?)_(?_114873 0)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,124 | 1,148,730 |
| essv6731923 | Remapped | Perfect | NC_000011.10:g.(11 48127_?)_(?_114858 6)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,127 | 1,148,586 |
| essv6768349 | Remapped | Perfect | NC_000011.10:g.(11 48131_?)_(?_114862 3)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,131 | 1,148,623 |
| essv6924139 | Remapped | Perfect | NC_000011.10:g.(11 48140_?)_(?_114859 4)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,140 | 1,148,594 |
| essv6919966 | Remapped | Perfect | NC_000011.10:g.(11 48141_?)_(?_114861 9)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,141 | 1,148,619 |
| essv6897532 | Remapped | Perfect | NC_000011.10:g.(11 48141_?)_(?_114871 2)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,141 | 1,148,712 |
| essv6783366 | Remapped | Perfect | NC_000011.10:g.(11 48146_?)_(?_114862 5)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,146 | 1,148,625 |
| essv6724306 | Remapped | Perfect | NC_000011.10:g.(11 48150_?)_(?_114858 7)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,150 | 1,148,587 |
| essv6937351 | Remapped | Perfect | NC_000011.10:g.(11 48151_?)_(?_114859 5)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,151 | 1,148,595 |
| essv6775539 | Remapped | Perfect | NC_000011.10:g.(11 48235_?)_(?_114846 3)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,235 | 1,148,463 |
| essv6904728 | Remapped | Perfect | NC_000011.10:g.(11 48241_?)_(?_114869 5)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,241 | 1,148,695 |
| essv6827500 | Remapped | Perfect | NC_000011.10:g.(11 48254_?)_(?_114856 0)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,254 | 1,148,560 |
| essv6965464 | Remapped | Perfect | NC_000011.10:g.(11 48323_?)_(?_114846 1)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,323 | 1,148,461 |
| essv6856894 | Remapped | Perfect | NC_000011.10:g.(11 48358_?)_(?_114841 0)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,148,358 | 1,148,410 |
| essv6823433 | Submitted genomic | NC_000011.9:g.(114 2005_?)_(?_1142489 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,005 | 1,142,489 | ||
| essv6834711 | Submitted genomic | NC_000011.9:g.(114 2005_?)_(?_1142502 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,005 | 1,142,502 | ||
| essv6770076 | Submitted genomic | NC_000011.9:g.(114 2007_?)_(?_1142523 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,007 | 1,142,523 | ||
| essv6791659 | Submitted genomic | NC_000011.9:g.(114 2020_?)_(?_1142444 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,020 | 1,142,444 | ||
| essv6681404 | Submitted genomic | NC_000011.9:g.(114 2020_?)_(?_1142531 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,020 | 1,142,531 | ||
| essv6771878 | Submitted genomic | NC_000011.9:g.(114 2027_?)_(?_1142517 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,027 | 1,142,517 | ||
| essv6940120 | Submitted genomic | NC_000011.9:g.(114 2032_?)_(?_1142638 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,032 | 1,142,638 | ||
| essv6731923 | Submitted genomic | NC_000011.9:g.(114 2035_?)_(?_1142494 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,035 | 1,142,494 | ||
| essv6768349 | Submitted genomic | NC_000011.9:g.(114 2039_?)_(?_1142531 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,039 | 1,142,531 | ||
| essv6924139 | Submitted genomic | NC_000011.9:g.(114 2048_?)_(?_1142502 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,048 | 1,142,502 | ||
| essv6919966 | Submitted genomic | NC_000011.9:g.(114 2049_?)_(?_1142527 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,049 | 1,142,527 | ||
| essv6897532 | Submitted genomic | NC_000011.9:g.(114 2049_?)_(?_1142620 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,049 | 1,142,620 | ||
| essv6783366 | Submitted genomic | NC_000011.9:g.(114 2054_?)_(?_1142533 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,054 | 1,142,533 | ||
| essv6724306 | Submitted genomic | NC_000011.9:g.(114 2058_?)_(?_1142495 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,058 | 1,142,495 | ||
| essv6937351 | Submitted genomic | NC_000011.9:g.(114 2059_?)_(?_1142503 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,059 | 1,142,503 | ||
| essv6775539 | Submitted genomic | NC_000011.9:g.(114 2143_?)_(?_1142371 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,143 | 1,142,371 | ||
| essv6904728 | Submitted genomic | NC_000011.9:g.(114 2149_?)_(?_1142603 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,149 | 1,142,603 | ||
| essv6827500 | Submitted genomic | NC_000011.9:g.(114 2162_?)_(?_1142468 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,162 | 1,142,468 | ||
| essv6965464 | Submitted genomic | NC_000011.9:g.(114 2231_?)_(?_1142369 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,231 | 1,142,369 | ||
| essv6856894 | Submitted genomic | NC_000011.9:g.(114 2266_?)_(?_1142318 )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,142,266 | 1,142,318 |