esv2764146
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:181,941
- Publication(s):Vogler et al. 2010
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: 2556 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 2556 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 1128 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2764146 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 133,400,840 | 133,582,780 |
| esv2764146 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 135,214,344 | 135,396,284 |
| esv2764146 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 135,064,334 | 135,246,274 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6995257 | copy number gain | SW_0775 | SNP array | SNP genotyping analysis | 68 |
| essv6995258 | copy number gain | SW_1372 | SNP array | SNP genotyping analysis | 28 |
| essv6995259 | copy number gain | SW_0311 | SNP array | SNP genotyping analysis | 24 |
| essv6995260 | copy number gain | SW_0076 | SNP array | SNP genotyping analysis | 46 |
| essv6995261 | copy number gain | SW_0145 | SNP array | SNP genotyping analysis | 56 |
| essv6995262 | copy number gain | SW_0170 | SNP array | SNP genotyping analysis | 59 |
| essv6995263 | copy number gain | SW_0216 | SNP array | SNP genotyping analysis | 39 |
| essv6995264 | copy number gain | SW_0579 | SNP array | SNP genotyping analysis | 36 |
| essv6995265 | copy number gain | SW_0585 | SNP array | SNP genotyping analysis | 35 |
| essv6995266 | copy number gain | SW_0632 | SNP array | SNP genotyping analysis | 50 |
| essv6995268 | copy number loss | SW_1004 | SNP array | SNP genotyping analysis | 31 |
| essv6995269 | copy number gain | SW_1017 | SNP array | SNP genotyping analysis | 33 |
| essv6995270 | copy number gain | SW_1074 | SNP array | SNP genotyping analysis | 37 |
| essv6995271 | copy number gain | SW_1104 | SNP array | SNP genotyping analysis | 29 |
| essv6995272 | copy number gain | SW_1131 | SNP array | SNP genotyping analysis | 31 |
| essv6995273 | copy number gain | SW_0634 | SNP array | SNP genotyping analysis | 49 |
| essv6995274 | copy number gain | SW_1366 | SNP array | SNP genotyping analysis | 27 |
| essv6995275 | copy number gain | SW_1317 | SNP array | SNP genotyping analysis | 24 |
| essv6995276 | copy number gain | SW_0149 | SNP array | SNP genotyping analysis | 38 |
| essv6995277 | copy number gain | SW_0891 | SNP array | SNP genotyping analysis | 34 |
| essv6995279 | copy number gain | SW_1199 | SNP array | SNP genotyping analysis | 37 |
| essv6995280 | copy number loss | SW_1234 | SNP array | SNP genotyping analysis | 19 |
| essv6995281 | copy number gain | SW_1569 | SNP array | SNP genotyping analysis | 34 |
| essv6995282 | copy number gain | SW_0169 | SNP array | SNP genotyping analysis | 40 |
| essv6995283 | copy number gain | SW_0352 | SNP array | SNP genotyping analysis | 35 |
| essv6995284 | copy number gain | SW_1142 | SNP array | SNP genotyping analysis | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6995257 | Remapped | Perfect | NC_000010.11:g.(?_ 133400840)_(133563 774_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,400,840 | 133,563,774 |
| essv6995258 | Remapped | Perfect | NC_000010.11:g.(?_ 133420636)_(133563 774_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,420,636 | 133,563,774 |
| essv6995259 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133552 598_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,552,598 |
| essv6995260 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133562 190_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,562,190 |
| essv6995261 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133562 190_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,562,190 |
| essv6995262 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133563 774_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,563,774 |
| essv6995263 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133563 774_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,563,774 |
| essv6995264 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133563 774_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,563,774 |
| essv6995265 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133563 774_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,563,774 |
| essv6995266 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133563 774_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,563,774 |
| essv6995268 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133563 774_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,563,774 |
| essv6995269 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133563 774_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,563,774 |
| essv6995270 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133563 774_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,563,774 |
| essv6995271 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133563 774_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,563,774 |
| essv6995272 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133563 774_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,563,774 |
| essv6995273 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133573 736_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,573,736 |
| essv6995274 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133573 736_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,573,736 |
| essv6995275 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133574 363_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,574,363 |
| essv6995276 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133576 392_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,576,392 |
| essv6995277 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133576 392_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,576,392 |
| essv6995279 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133576 392_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,576,392 |
| essv6995280 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133576 392_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,576,392 |
| essv6995281 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133576 392_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,576,392 |
| essv6995282 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133582 780_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,582,780 |
| essv6995283 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133582 780_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,582,780 |
| essv6995284 | Remapped | Perfect | NC_000010.11:g.(?_ 133429369)_(133582 780_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 133,429,369 | 133,582,780 |
| essv6995257 | Remapped | Perfect | NC_000010.10:g.(?_ 135214344)_(135377 278_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,214,344 | 135,377,278 |
| essv6995258 | Remapped | Perfect | NC_000010.10:g.(?_ 135234140)_(135377 278_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,234,140 | 135,377,278 |
| essv6995259 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135366 102_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,366,102 |
| essv6995260 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135375 694_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,375,694 |
| essv6995261 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135375 694_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,375,694 |
| essv6995262 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135377 278_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,377,278 |
| essv6995263 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135377 278_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,377,278 |
| essv6995264 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135377 278_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,377,278 |
| essv6995265 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135377 278_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,377,278 |
| essv6995266 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135377 278_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,377,278 |
| essv6995268 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135377 278_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,377,278 |
| essv6995269 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135377 278_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,377,278 |
| essv6995270 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135377 278_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,377,278 |
| essv6995271 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135377 278_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,377,278 |
| essv6995272 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135377 278_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,377,278 |
| essv6995273 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135387 240_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,387,240 |
| essv6995274 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135387 240_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,387,240 |
| essv6995275 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135387 867_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,387,867 |
| essv6995276 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135389 896_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,389,896 |
| essv6995277 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135389 896_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,389,896 |
| essv6995279 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135389 896_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,389,896 |
| essv6995280 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135389 896_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,389,896 |
| essv6995281 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135389 896_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,389,896 |
| essv6995282 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135396 284_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,396,284 |
| essv6995283 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135396 284_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,396,284 |
| essv6995284 | Remapped | Perfect | NC_000010.10:g.(?_ 135242873)_(135396 284_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 135,242,873 | 135,396,284 |
| essv6995257 | Submitted genomic | NC_000010.9:g.(?_1 35064334)_(1352272 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,064,334 | 135,227,268 | ||
| essv6995258 | Submitted genomic | NC_000010.9:g.(?_1 35084130)_(1352272 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,084,130 | 135,227,268 | ||
| essv6995259 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352160 92_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,216,092 | ||
| essv6995260 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352256 84_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,225,684 | ||
| essv6995261 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352256 84_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,225,684 | ||
| essv6995262 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352272 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,227,268 | ||
| essv6995263 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352272 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,227,268 | ||
| essv6995264 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352272 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,227,268 | ||
| essv6995265 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352272 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,227,268 | ||
| essv6995266 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352272 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,227,268 | ||
| essv6995268 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352272 68_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,227,268 | ||
| essv6995269 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352272 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,227,268 | ||
| essv6995270 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352272 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,227,268 | ||
| essv6995271 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352272 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,227,268 | ||
| essv6995272 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352272 68_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,227,268 | ||
| essv6995273 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352372 30_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,237,230 | ||
| essv6995274 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352372 30_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,237,230 | ||
| essv6995275 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352378 57_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,237,857 | ||
| essv6995276 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352398 86_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,239,886 | ||
| essv6995277 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352398 86_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,239,886 | ||
| essv6995279 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352398 86_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,239,886 | ||
| essv6995280 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352398 86_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,239,886 | ||
| essv6995281 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352398 86_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,239,886 | ||
| essv6995282 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352462 74_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,246,274 | ||
| essv6995283 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352462 74_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,246,274 | ||
| essv6995284 | Submitted genomic | NC_000010.9:g.(?_1 35092863)_(1352462 74_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,092,863 | 135,246,274 |