esv34171
- 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:196,146
- 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: 750 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 750 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34171 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 80,724,031 | 80,920,176 |
| esv34171 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 81,298,166 | 81,494,311 |
| esv34171 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 80,196,167 | 80,392,312 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990637 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv6990637 | Remapped | Perfect | NC_000013.11:g.(?_ 80724031)_(8092017 6_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 80,724,031 | 80,920,176 |
| essv6990637 | Remapped | Perfect | NC_000013.10:g.(?_ 81298166)_(8149431 1_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 81,298,166 | 81,494,311 |
| essv6990637 | Submitted genomic | NC_000013.9:g.(?_8 0196167)_(80392312 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 80,196,167 | 80,392,312 |