esv3891754
- 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:237,149
- 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: 991 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 991 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3891754 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 9,363,411 | 9,363,411 | 9,600,559 | 9,600,559 |
| esv3891754 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 9,405,374 | 9,405,374 | 9,642,522 | 9,642,522 |
| esv3891754 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 9,445,380 | 9,445,380 | 9,682,528 | 9,682,528 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25782338 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25782338 | Remapped | Perfect | NC_000010.11:g.(?_ 9363411)_(9600559_ ?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 9,363,411 | 9,600,559 |
| essv25782338 | Remapped | Perfect | NC_000010.10:g.(?_ 9405374)_(9642522_ ?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 9,405,374 | 9,642,522 |
| essv25782338 | Submitted genomic | NC_000010.9:g.(?_9 445380)_(9682528_? )del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 9,445,380 | 9,682,528 |