esv3891814
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:725,705
- 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: 2885 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 2885 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 996 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3891814 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 54,685,856 | 54,685,856 | 55,411,560 | 55,411,560 |
| esv3891814 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 56,445,616 | 56,445,616 | 57,171,320 | 57,171,320 |
| esv3891814 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 56,115,622 | 56,115,622 | 56,841,326 | 56,841,326 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25781837 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25801416 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25781837 | Remapped | Perfect | NC_000010.11:g.(?_ 54685856)_(5541156 0_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,685,856 | 55,411,560 |
| essv25801416 | Remapped | Perfect | NC_000010.11:g.(?_ 54685856)_(5541156 0_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,685,856 | 55,411,560 |
| essv25781837 | Remapped | Perfect | NC_000010.10:g.(?_ 56445616)_(5717132 0_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,445,616 | 57,171,320 |
| essv25801416 | Remapped | Perfect | NC_000010.10:g.(?_ 56445616)_(5717132 0_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,445,616 | 57,171,320 |
| essv25781837 | Submitted genomic | NC_000010.9:g.(?_5 6115622)_(56841326 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 56,115,622 | 56,841,326 | ||
| essv25801416 | Submitted genomic | NC_000010.9:g.(?_5 6115622)_(56841326 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 56,115,622 | 56,841,326 |