esv2764052
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,263
- 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: 202 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 202 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2764052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 13,547,787 | 13,552,049 |
| esv2764052 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 13,587,412 | 13,591,674 |
| esv2764052 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 13,553,937 | 13,558,199 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7033398 | copy number loss | SW_0032 | SNP array | SNP genotyping analysis | 58 |
| essv7033399 | copy number loss | SW_0311 | SNP array | SNP genotyping analysis | 24 |
| essv7033401 | copy number loss | SW_0791 | SNP array | SNP genotyping analysis | 38 |
| essv7033402 | copy number loss | SW_0800 | SNP array | SNP genotyping analysis | 41 |
| essv7033403 | copy number loss | SW_1038 | SNP array | SNP genotyping analysis | 28 |
| essv7033404 | copy number loss | SW_1110 | SNP array | SNP genotyping analysis | 18 |
| essv7033405 | copy number loss | SW_1130 | SNP array | SNP genotyping analysis | 33 |
| essv7033406 | copy number loss | SW_1308 | SNP array | SNP genotyping analysis | 32 |
| essv7033407 | copy number loss | SW_1424 | SNP array | SNP genotyping analysis | 26 |
| essv7033408 | copy number loss | SW_1511 | SNP array | SNP genotyping analysis | 31 |
| essv6990747 | copy number loss | SW_1274 | SNP array | SNP genotyping analysis | 27 |
| essv6990748 | copy number loss | SW_1419 | SNP array | SNP genotyping analysis | 32 |
| essv7033409 | copy number loss | SW_0185 | SNP array | SNP genotyping analysis | 43 |
| essv7033410 | copy number loss | SW_0586 | SNP array | SNP genotyping analysis | 36 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7033398 | Remapped | Perfect | NC_000007.14:g.(?_ 13547787)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,547,787 | 13,552,049 |
| essv7033399 | Remapped | Perfect | NC_000007.14:g.(?_ 13547787)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,547,787 | 13,552,049 |
| essv7033401 | Remapped | Perfect | NC_000007.14:g.(?_ 13547787)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,547,787 | 13,552,049 |
| essv7033402 | Remapped | Perfect | NC_000007.14:g.(?_ 13547787)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,547,787 | 13,552,049 |
| essv7033403 | Remapped | Perfect | NC_000007.14:g.(?_ 13547787)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,547,787 | 13,552,049 |
| essv7033404 | Remapped | Perfect | NC_000007.14:g.(?_ 13547787)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,547,787 | 13,552,049 |
| essv7033405 | Remapped | Perfect | NC_000007.14:g.(?_ 13547787)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,547,787 | 13,552,049 |
| essv7033406 | Remapped | Perfect | NC_000007.14:g.(?_ 13547787)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,547,787 | 13,552,049 |
| essv7033407 | Remapped | Perfect | NC_000007.14:g.(?_ 13547787)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,547,787 | 13,552,049 |
| essv7033408 | Remapped | Perfect | NC_000007.14:g.(?_ 13547787)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,547,787 | 13,552,049 |
| essv6990747 | Remapped | Perfect | NC_000007.14:g.(?_ 13550519)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,550,519 | 13,552,049 |
| essv6990748 | Remapped | Perfect | NC_000007.14:g.(?_ 13550519)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,550,519 | 13,552,049 |
| essv7033409 | Remapped | Perfect | NC_000007.14:g.(?_ 13550519)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,550,519 | 13,552,049 |
| essv7033410 | Remapped | Perfect | NC_000007.14:g.(?_ 13550519)_(1355204 9_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 13,550,519 | 13,552,049 |
| essv7033398 | Remapped | Perfect | NC_000007.13:g.(?_ 13587412)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,587,412 | 13,591,674 |
| essv7033399 | Remapped | Perfect | NC_000007.13:g.(?_ 13587412)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,587,412 | 13,591,674 |
| essv7033401 | Remapped | Perfect | NC_000007.13:g.(?_ 13587412)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,587,412 | 13,591,674 |
| essv7033402 | Remapped | Perfect | NC_000007.13:g.(?_ 13587412)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,587,412 | 13,591,674 |
| essv7033403 | Remapped | Perfect | NC_000007.13:g.(?_ 13587412)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,587,412 | 13,591,674 |
| essv7033404 | Remapped | Perfect | NC_000007.13:g.(?_ 13587412)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,587,412 | 13,591,674 |
| essv7033405 | Remapped | Perfect | NC_000007.13:g.(?_ 13587412)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,587,412 | 13,591,674 |
| essv7033406 | Remapped | Perfect | NC_000007.13:g.(?_ 13587412)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,587,412 | 13,591,674 |
| essv7033407 | Remapped | Perfect | NC_000007.13:g.(?_ 13587412)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,587,412 | 13,591,674 |
| essv7033408 | Remapped | Perfect | NC_000007.13:g.(?_ 13587412)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,587,412 | 13,591,674 |
| essv6990747 | Remapped | Perfect | NC_000007.13:g.(?_ 13590144)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,590,144 | 13,591,674 |
| essv6990748 | Remapped | Perfect | NC_000007.13:g.(?_ 13590144)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,590,144 | 13,591,674 |
| essv7033409 | Remapped | Perfect | NC_000007.13:g.(?_ 13590144)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,590,144 | 13,591,674 |
| essv7033410 | Remapped | Perfect | NC_000007.13:g.(?_ 13590144)_(1359167 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 13,590,144 | 13,591,674 |
| essv7033398 | Submitted genomic | NC_000007.12:g.(?_ 13553937)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,553,937 | 13,558,199 | ||
| essv7033399 | Submitted genomic | NC_000007.12:g.(?_ 13553937)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,553,937 | 13,558,199 | ||
| essv7033401 | Submitted genomic | NC_000007.12:g.(?_ 13553937)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,553,937 | 13,558,199 | ||
| essv7033402 | Submitted genomic | NC_000007.12:g.(?_ 13553937)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,553,937 | 13,558,199 | ||
| essv7033403 | Submitted genomic | NC_000007.12:g.(?_ 13553937)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,553,937 | 13,558,199 | ||
| essv7033404 | Submitted genomic | NC_000007.12:g.(?_ 13553937)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,553,937 | 13,558,199 | ||
| essv7033405 | Submitted genomic | NC_000007.12:g.(?_ 13553937)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,553,937 | 13,558,199 | ||
| essv7033406 | Submitted genomic | NC_000007.12:g.(?_ 13553937)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,553,937 | 13,558,199 | ||
| essv7033407 | Submitted genomic | NC_000007.12:g.(?_ 13553937)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,553,937 | 13,558,199 | ||
| essv7033408 | Submitted genomic | NC_000007.12:g.(?_ 13553937)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,553,937 | 13,558,199 | ||
| essv6990747 | Submitted genomic | NC_000007.12:g.(?_ 13556669)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,556,669 | 13,558,199 | ||
| essv6990748 | Submitted genomic | NC_000007.12:g.(?_ 13556669)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,556,669 | 13,558,199 | ||
| essv7033409 | Submitted genomic | NC_000007.12:g.(?_ 13556669)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,556,669 | 13,558,199 | ||
| essv7033410 | Submitted genomic | NC_000007.12:g.(?_ 13556669)_(1355819 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 13,556,669 | 13,558,199 |