esv32551
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:77,620
- Publication(s):de Smith et al. 2007
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: 215 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 215 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv32551 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 8,435,476 | 8,513,095 |
| esv32551 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 8,457,023 | 8,534,642 |
| esv32551 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 8,413,599 | 8,491,218 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv100035 | copy number loss | 22086 | Oligo aCGH | Probe signal intensity | 362 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv100035 | Remapped | Perfect | NC_000011.10:g.(82 63682_8435476)_(85 13095_8576914)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 8,263,682 | 8,435,476 | 8,513,095 | 8,576,914 |
| essv100035 | Remapped | Perfect | NC_000011.9:g.(828 5229_8457023)_(853 4642_8598461)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 8,285,229 | 8,457,023 | 8,534,642 | 8,598,461 |
| essv100035 | Submitted genomic | NC_000011.8:g.(824 1805_8413599)_(849 1218_8555037)del | NCBI35 (hg17) | NC_000011.8 | Chr11 | 8,241,805 | 8,413,599 | 8,491,218 | 8,555,037 |