esv2761112
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43,034
- 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: 408 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 408 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2761112 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 140,491,738 | 140,534,771 |
| esv2761112 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 140,191,538 | 140,234,571 |
| esv2761112 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 139,838,007 | 139,881,040 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7015124 | copy number loss | RW_0123 | SNP array | SNP genotyping analysis | 71 |
| essv7015125 | copy number loss | RW_0250 | SNP array | SNP genotyping analysis | 65 |
| essv7015126 | copy number loss | RW_0129 | SNP array | SNP genotyping analysis | 68 |
| essv7015127 | copy number loss | RW_0013 | SNP array | SNP genotyping analysis | 64 |
| essv7015128 | copy number loss | RW_0106 | SNP array | SNP genotyping analysis | 52 |
| essv7015129 | copy number loss | RW_0222 | SNP array | SNP genotyping analysis | 47 |
| essv7015130 | copy number loss | RW_0224 | SNP array | SNP genotyping analysis | 57 |
| essv7015131 | copy number loss | RW_0258 | SNP array | SNP genotyping analysis | 70 |
| essv7015132 | copy number loss | RW_0590 | SNP array | SNP genotyping analysis | 52 |
| essv7015134 | copy number loss | RW_0599 | SNP array | SNP genotyping analysis | 68 |
| essv7015135 | copy number loss | RW_0073 | SNP array | SNP genotyping analysis | 44 |
| essv7015136 | copy number loss | RW_0273 | SNP array | SNP genotyping analysis | 56 |
| essv7015137 | copy number gain | RW_0218 | SNP array | SNP genotyping analysis | 60 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7015124 | Remapped | Perfect | NC_000007.14:g.(?_ 140491738)_(140499 212_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,491,738 | 140,499,212 |
| essv7015125 | Remapped | Perfect | NC_000007.14:g.(?_ 140492191)_(140507 429_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,492,191 | 140,507,429 |
| essv7015126 | Remapped | Perfect | NC_000007.14:g.(?_ 140493059)_(140498 752_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,493,059 | 140,498,752 |
| essv7015127 | Remapped | Perfect | NC_000007.14:g.(?_ 140493059)_(140499 212_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,493,059 | 140,499,212 |
| essv7015128 | Remapped | Perfect | NC_000007.14:g.(?_ 140493059)_(140499 212_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,493,059 | 140,499,212 |
| essv7015129 | Remapped | Perfect | NC_000007.14:g.(?_ 140493059)_(140499 212_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,493,059 | 140,499,212 |
| essv7015130 | Remapped | Perfect | NC_000007.14:g.(?_ 140493059)_(140499 212_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,493,059 | 140,499,212 |
| essv7015131 | Remapped | Perfect | NC_000007.14:g.(?_ 140493059)_(140499 212_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,493,059 | 140,499,212 |
| essv7015132 | Remapped | Perfect | NC_000007.14:g.(?_ 140493059)_(140499 212_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,493,059 | 140,499,212 |
| essv7015134 | Remapped | Perfect | NC_000007.14:g.(?_ 140493059)_(140499 212_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,493,059 | 140,499,212 |
| essv7015135 | Remapped | Perfect | NC_000007.14:g.(?_ 140493059)_(140510 013_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,493,059 | 140,510,013 |
| essv7015136 | Remapped | Perfect | NC_000007.14:g.(?_ 140495201)_(140499 212_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,495,201 | 140,499,212 |
| essv7015137 | Remapped | Perfect | NC_000007.14:g.(?_ 140509998)_(140534 771_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 140,509,998 | 140,534,771 |
| essv7015124 | Remapped | Perfect | NC_000007.13:g.(?_ 140191538)_(140199 012_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,191,538 | 140,199,012 |
| essv7015125 | Remapped | Perfect | NC_000007.13:g.(?_ 140191991)_(140207 229_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,191,991 | 140,207,229 |
| essv7015126 | Remapped | Perfect | NC_000007.13:g.(?_ 140192859)_(140198 552_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,192,859 | 140,198,552 |
| essv7015127 | Remapped | Perfect | NC_000007.13:g.(?_ 140192859)_(140199 012_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,192,859 | 140,199,012 |
| essv7015128 | Remapped | Perfect | NC_000007.13:g.(?_ 140192859)_(140199 012_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,192,859 | 140,199,012 |
| essv7015129 | Remapped | Perfect | NC_000007.13:g.(?_ 140192859)_(140199 012_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,192,859 | 140,199,012 |
| essv7015130 | Remapped | Perfect | NC_000007.13:g.(?_ 140192859)_(140199 012_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,192,859 | 140,199,012 |
| essv7015131 | Remapped | Perfect | NC_000007.13:g.(?_ 140192859)_(140199 012_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,192,859 | 140,199,012 |
| essv7015132 | Remapped | Perfect | NC_000007.13:g.(?_ 140192859)_(140199 012_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,192,859 | 140,199,012 |
| essv7015134 | Remapped | Perfect | NC_000007.13:g.(?_ 140192859)_(140199 012_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,192,859 | 140,199,012 |
| essv7015135 | Remapped | Perfect | NC_000007.13:g.(?_ 140192859)_(140209 813_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,192,859 | 140,209,813 |
| essv7015136 | Remapped | Perfect | NC_000007.13:g.(?_ 140195001)_(140199 012_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,195,001 | 140,199,012 |
| essv7015137 | Remapped | Perfect | NC_000007.13:g.(?_ 140209798)_(140234 571_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 140,209,798 | 140,234,571 |
| essv7015124 | Submitted genomic | NC_000007.12:g.(?_ 139838007)_(139845 481_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,838,007 | 139,845,481 | ||
| essv7015125 | Submitted genomic | NC_000007.12:g.(?_ 139838460)_(139853 698_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,838,460 | 139,853,698 | ||
| essv7015126 | Submitted genomic | NC_000007.12:g.(?_ 139839328)_(139845 021_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,839,328 | 139,845,021 | ||
| essv7015127 | Submitted genomic | NC_000007.12:g.(?_ 139839328)_(139845 481_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,839,328 | 139,845,481 | ||
| essv7015128 | Submitted genomic | NC_000007.12:g.(?_ 139839328)_(139845 481_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,839,328 | 139,845,481 | ||
| essv7015129 | Submitted genomic | NC_000007.12:g.(?_ 139839328)_(139845 481_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,839,328 | 139,845,481 | ||
| essv7015130 | Submitted genomic | NC_000007.12:g.(?_ 139839328)_(139845 481_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,839,328 | 139,845,481 | ||
| essv7015131 | Submitted genomic | NC_000007.12:g.(?_ 139839328)_(139845 481_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,839,328 | 139,845,481 | ||
| essv7015132 | Submitted genomic | NC_000007.12:g.(?_ 139839328)_(139845 481_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,839,328 | 139,845,481 | ||
| essv7015134 | Submitted genomic | NC_000007.12:g.(?_ 139839328)_(139845 481_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,839,328 | 139,845,481 | ||
| essv7015135 | Submitted genomic | NC_000007.12:g.(?_ 139839328)_(139856 282_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,839,328 | 139,856,282 | ||
| essv7015136 | Submitted genomic | NC_000007.12:g.(?_ 139841470)_(139845 481_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,841,470 | 139,845,481 | ||
| essv7015137 | Submitted genomic | NC_000007.12:g.(?_ 139856267)_(139881 040_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 139,856,267 | 139,881,040 |