esv3891463
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:336,981
- Publication(s):Suktitipat et al. 2014
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: 1324 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1324 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 452 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3891463 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 114,514,291 | 114,514,291 | 114,851,271 | 114,851,271 |
| esv3891463 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 115,526,520 | 115,526,520 | 115,863,500 | 115,863,500 |
| esv3891463 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 115,595,696 | 115,595,696 | 115,932,676 | 115,932,676 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25780970 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25780970 | Remapped | Perfect | NC_000008.11:g.(?_ 114514291)_(114851 271_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 114,514,291 | 114,851,271 |
| essv25780970 | Remapped | Perfect | NC_000008.10:g.(?_ 115526520)_(115863 500_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 115,526,520 | 115,863,500 |
| essv25780970 | Submitted genomic | NC_000008.9:g.(?_1 15595696)_(1159326 76_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 115,595,696 | 115,932,676 |