esv15464
- 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:66,114
- 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: 587 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 589 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 427 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv15464 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 62,032,840 | 62,098,953 |
| esv15464 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 45,168,992 | 45,235,105 |
| esv15464 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 45,108,988 | 45,175,101 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv57806 | Remapped | Perfect | NC_000009.12:g.(?_ 62032840)_(6209895 3_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 62,032,840 | 62,098,953 |
| essv57806 | Remapped | Perfect | NC_000009.11:g.(?_ 45168992)_(4523510 5_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 45,168,992 | 45,235,105 |
| essv57806 | Submitted genomic | NC_000009.10:g.(?_ 45108988)_(4517510 1_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 45,108,988 | 45,175,101 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv57806 | 2 | NA11993 | Oligo aCGH | Probe signal intensity | Pass |