esv34144
- 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:251,728
- 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: 773 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 773 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34144 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 79,855,333 | 80,107,060 |
| esv34144 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 80,321,018 | 80,572,745 |
| esv34144 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 80,093,606 | 80,345,333 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990651 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv6990651 | Remapped | Perfect | NC_000001.11:g.(?_ 79855333)_(8010706 0_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 79,855,333 | 80,107,060 |
| essv6990651 | Remapped | Perfect | NC_000001.10:g.(?_ 80321018)_(8057274 5_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 80,321,018 | 80,572,745 |
| essv6990651 | Submitted genomic | NC_000001.9:g.(?_8 0093606)_(80345333 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 80,093,606 | 80,345,333 |