esv34009
- 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:157,049
- 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: 785 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 785 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 221 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34009 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 30,378,000 | 30,535,048 |
| esv34009 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 27,957,966 | 28,115,014 |
| esv34009 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 26,211,964 | 26,369,012 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990674 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv6990674 | Remapped | Perfect | NC_000018.10:g.(?_ 30378000)_(3053504 8_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 30,378,000 | 30,535,048 |
| essv6990674 | Remapped | Perfect | NC_000018.9:g.(?_2 7957966)_(28115014 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 27,957,966 | 28,115,014 |
| essv6990674 | Submitted genomic | NC_000018.8:g.(?_2 6211964)_(26369012 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 26,211,964 | 26,369,012 |