esv15914
- 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:50,126
- 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: 386 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 386 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv15914 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 105,621,781 | 105,671,906 |
| esv15914 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 106,164,403 | 106,214,528 |
| esv15914 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 105,965,926 | 106,016,051 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv59521 | Remapped | Perfect | NC_000001.11:g.(?_ 105621781)_(105671 906_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,621,781 | 105,671,906 |
| essv59521 | Remapped | Perfect | NC_000001.10:g.(?_ 106164403)_(106214 528_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,164,403 | 106,214,528 |
| essv59521 | Submitted genomic | NC_000001.9:g.(?_1 05965926)_(1060160 51_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 105,965,926 | 106,016,051 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv59521 | 2 | NA19108 | Oligo aCGH | Probe signal intensity | Pass |