esv34086
- 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:94,373
- 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: 344 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 344 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34086 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 43,519,504 | 43,613,876 |
| esv34086 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 43,746,643 | 43,841,015 |
| esv34086 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 43,600,147 | 43,694,519 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990632 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv6990632 | Remapped | Perfect | NC_000002.12:g.(?_ 43519504)_(4361387 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 43,519,504 | 43,613,876 |
| essv6990632 | Remapped | Perfect | NC_000002.11:g.(?_ 43746643)_(4384101 5_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 43,746,643 | 43,841,015 |
| essv6990632 | Submitted genomic | NC_000002.10:g.(?_ 43600147)_(4369451 9_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 43,600,147 | 43,694,519 |