esv34064
- 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:59,765
- 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: 250 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34064 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 54,761,676 | 54,821,440 |
| esv34064 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 54,829,369 | 54,889,133 |
| esv34064 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 54,796,863 | 54,856,627 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990579 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv6990579 | Remapped | Perfect | NC_000007.14:g.(?_ 54761676)_(5482144 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 54,761,676 | 54,821,440 |
| essv6990579 | Remapped | Perfect | NC_000007.13:g.(?_ 54829369)_(5488913 3_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 54,829,369 | 54,889,133 |
| essv6990579 | Submitted genomic | NC_000007.12:g.(?_ 54796863)_(5485662 7_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 54,796,863 | 54,856,627 |