esv3692982
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:84,129
- Publication(s):Palta et al. 2015
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: 325 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 325 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3692982 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 49,962,934 | 50,047,062 |
| esv3692982 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 50,875,494 | 50,959,622 |
| esv3692982 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 51,038,047 | 51,122,175 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508556 | Remapped | Perfect | NC_000008.11:g.(?_ 49962934)_(5004706 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 49,962,934 | 50,047,062 |
| essv16508556 | Remapped | Perfect | NC_000008.10:g.(?_ 50875494)_(5095962 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 50,875,494 | 50,959,622 |
| essv16508556 | Submitted genomic | NC_000008.9:g.(?_5 1038047)_(51122175 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 51,038,047 | 51,122,175 |