esv2762643
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43,272
- 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: 479 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 479 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2762643 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 5,133,363 | 5,176,634 |
| esv2762643 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 5,172,994 | 5,216,265 |
| esv2762643 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 5,139,520 | 5,182,791 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7014444 | copy number loss | RW_0544 | SNP array | SNP genotyping analysis | 52 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7014444 | Remapped | Perfect | NC_000007.14:g.(?_ 5133363)_(5176634_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,133,363 | 5,176,634 |
| essv7014444 | Remapped | Perfect | NC_000007.13:g.(?_ 5172994)_(5216265_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 5,172,994 | 5,216,265 |
| essv7014444 | Submitted genomic | NC_000007.12:g.(?_ 5139520)_(5182791_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 5,139,520 | 5,182,791 |