esv9948
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:18,221
- Publication(s):Conrad et al. 2009
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: 240 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 240 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv9948 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 92,045,313 | 92,063,533 |
| esv9948 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 92,588,543 | 92,606,763 |
| esv9948 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 90,389,547 | 90,407,767 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv46204 | Remapped | Perfect | NC_000015.10:g.(?_ 92045313)_(9206353 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 92,045,313 | 92,063,533 |
| essv46204 | Remapped | Perfect | NC_000015.9:g.(?_9 2588543)_(92606763 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 92,588,543 | 92,606,763 |
| essv46204 | Submitted genomic | NC_000015.8:g.(?_9 0389547)_(90407767 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 90,389,547 | 90,407,767 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv46204 | 2 | NA19129 | Oligo aCGH | Probe signal intensity | Pass |