esv3891646
- 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:266,072
- 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: 903 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 909 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3891646 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 26,248,037 | 26,248,037 | 26,514,108 | 26,514,108 |
| esv3891646 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 26,248,035 | 26,248,035 | 26,514,106 | 26,514,106 |
| esv3891646 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 26,238,035 | 26,238,035 | 26,504,106 | 26,504,106 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25783935 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25783935 | Remapped | Perfect | NC_000009.12:g.(?_ 26248037)_(2651410 8_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 26,248,037 | 26,514,108 |
| essv25783935 | Remapped | Perfect | NC_000009.11:g.(?_ 26248035)_(2651410 6_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 26,248,035 | 26,514,106 |
| essv25783935 | Submitted genomic | NC_000009.10:g.(?_ 26238035)_(2650410 6_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 26,238,035 | 26,504,106 |