esv34186
- Organism: Homo sapiens
- Study:estd49 (Gusev et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:121,806
- Publication(s):Gusev et al. 2008
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: 724 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 724 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 202 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34186 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 5,714,407 | 5,836,212 |
| esv34186 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 5,695,053 | 5,816,858 |
| esv34186 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 5,643,053 | 5,764,858 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990572 | copy number loss | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6990572 | Remapped | Perfect | NC_000020.11:g.(?_ 5714407)_(5836212_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 5,714,407 | 5,836,212 |
| essv6990572 | Remapped | Perfect | NC_000020.10:g.(?_ 5695053)_(5816858_ ?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 5,695,053 | 5,816,858 |
| essv6990572 | Submitted genomic | NC_000020.9:g.(?_5 643053)_(5764858_? )del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 5,643,053 | 5,764,858 |