esv2763376
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:84,224
- 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: 404 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 404 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2763376 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 13,055,901 | 13,140,124 |
| esv2763376 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 13,196,026 | 13,280,249 |
| esv2763376 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 13,113,477 | 13,197,700 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7009678 | copy number gain | SW_0254 | SNP array | SNP genotyping analysis | 29 |
| essv7009689 | copy number gain | SW_1147 | SNP array | SNP genotyping analysis | 41 |
| essv7009700 | copy number gain | SW_1459 | SNP array | SNP genotyping analysis | 34 |
| essv7009711 | copy number gain | SW_0048 | SNP array | SNP genotyping analysis | 32 |
| essv7009722 | copy number gain | SW_0376 | SNP array | SNP genotyping analysis | 28 |
| essv7009733 | copy number gain | SW_0525 | SNP array | SNP genotyping analysis | 29 |
| essv7009745 | copy number gain | SW_0675 | SNP array | SNP genotyping analysis | 35 |
| essv7009756 | copy number gain | SW_1043 | SNP array | SNP genotyping analysis | 55 |
| essv7009767 | copy number gain | SW_1175 | SNP array | SNP genotyping analysis | 45 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7009678 | Remapped | Perfect | NC_000002.12:g.(?_ 13055901)_(1314012 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 13,055,901 | 13,140,124 |
| essv7009689 | Remapped | Perfect | NC_000002.12:g.(?_ 13060017)_(1314012 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 13,060,017 | 13,140,124 |
| essv7009700 | Remapped | Perfect | NC_000002.12:g.(?_ 13060017)_(1314012 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 13,060,017 | 13,140,124 |
| essv7009711 | Remapped | Perfect | NC_000002.12:g.(?_ 13062181)_(1314012 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 13,062,181 | 13,140,124 |
| essv7009722 | Remapped | Perfect | NC_000002.12:g.(?_ 13062181)_(1314012 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 13,062,181 | 13,140,124 |
| essv7009733 | Remapped | Perfect | NC_000002.12:g.(?_ 13062181)_(1314012 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 13,062,181 | 13,140,124 |
| essv7009745 | Remapped | Perfect | NC_000002.12:g.(?_ 13062181)_(1314012 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 13,062,181 | 13,140,124 |
| essv7009756 | Remapped | Perfect | NC_000002.12:g.(?_ 13062181)_(1314012 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 13,062,181 | 13,140,124 |
| essv7009767 | Remapped | Perfect | NC_000002.12:g.(?_ 13062181)_(1314012 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 13,062,181 | 13,140,124 |
| essv7009678 | Remapped | Perfect | NC_000002.11:g.(?_ 13196026)_(1328024 9_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 13,196,026 | 13,280,249 |
| essv7009689 | Remapped | Perfect | NC_000002.11:g.(?_ 13200142)_(1328024 9_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 13,200,142 | 13,280,249 |
| essv7009700 | Remapped | Perfect | NC_000002.11:g.(?_ 13200142)_(1328024 9_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 13,200,142 | 13,280,249 |
| essv7009711 | Remapped | Perfect | NC_000002.11:g.(?_ 13202306)_(1328024 9_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 13,202,306 | 13,280,249 |
| essv7009722 | Remapped | Perfect | NC_000002.11:g.(?_ 13202306)_(1328024 9_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 13,202,306 | 13,280,249 |
| essv7009733 | Remapped | Perfect | NC_000002.11:g.(?_ 13202306)_(1328024 9_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 13,202,306 | 13,280,249 |
| essv7009745 | Remapped | Perfect | NC_000002.11:g.(?_ 13202306)_(1328024 9_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 13,202,306 | 13,280,249 |
| essv7009756 | Remapped | Perfect | NC_000002.11:g.(?_ 13202306)_(1328024 9_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 13,202,306 | 13,280,249 |
| essv7009767 | Remapped | Perfect | NC_000002.11:g.(?_ 13202306)_(1328024 9_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 13,202,306 | 13,280,249 |
| essv7009678 | Submitted genomic | NC_000002.10:g.(?_ 13113477)_(1319770 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 13,113,477 | 13,197,700 | ||
| essv7009689 | Submitted genomic | NC_000002.10:g.(?_ 13117593)_(1319770 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 13,117,593 | 13,197,700 | ||
| essv7009700 | Submitted genomic | NC_000002.10:g.(?_ 13117593)_(1319770 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 13,117,593 | 13,197,700 | ||
| essv7009711 | Submitted genomic | NC_000002.10:g.(?_ 13119757)_(1319770 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 13,119,757 | 13,197,700 | ||
| essv7009722 | Submitted genomic | NC_000002.10:g.(?_ 13119757)_(1319770 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 13,119,757 | 13,197,700 | ||
| essv7009733 | Submitted genomic | NC_000002.10:g.(?_ 13119757)_(1319770 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 13,119,757 | 13,197,700 | ||
| essv7009745 | Submitted genomic | NC_000002.10:g.(?_ 13119757)_(1319770 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 13,119,757 | 13,197,700 | ||
| essv7009756 | Submitted genomic | NC_000002.10:g.(?_ 13119757)_(1319770 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 13,119,757 | 13,197,700 | ||
| essv7009767 | Submitted genomic | NC_000002.10:g.(?_ 13119757)_(1319770 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 13,119,757 | 13,197,700 |