esv2762391
- 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:54,547
- 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: 752 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 624 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 320 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 432 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2762391 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 12,281 | 66,827 |
| esv2762391 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 25,701 | 66,719 |
| esv2762391 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_004775427.1 | Chr4|NW_00 4775427.1 | 15,701 | 56,827 |
| esv2762391 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 2,281 | 56,719 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7010202 | copy number loss | RW_0653 | SNP array | SNP genotyping analysis | 55 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7010202 | Remapped | Good | NC_000004.12:g.(?_ 12281)_(66827_?)de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 12,281 | 66,827 |
| essv7010202 | Remapped | Pass | NW_004775427.1:g.( ?_15701)_(56827_?) del | GRCh37.p13 | Second Pass | NW_004775427.1 | Chr4|NW_00 4775427.1 | 15,701 | 56,827 |
| essv7010202 | Remapped | Pass | NC_000004.11:g.(?_ 25701)_(66719_?)de l | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,701 | 66,719 |
| essv7010202 | Submitted genomic | NC_000004.10:g.(?_ 2281)_(56719_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 2,281 | 56,719 |