esv15035
- 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:54,065
- 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: 246 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv15035 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 131,857,552 | 131,911,616 |
| esv15035 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 132,778,707 | 132,832,771 |
| esv15035 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 132,998,157 | 133,052,221 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv75557 | Remapped | Perfect | NC_000004.12:g.(?_ 131857552)_(131911 616_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 131,857,552 | 131,911,616 |
| essv75557 | Remapped | Perfect | NC_000004.11:g.(?_ 132778707)_(132832 771_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 132,778,707 | 132,832,771 |
| essv75557 | Submitted genomic | NC_000004.10:g.(?_ 132998157)_(133052 221_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 132,998,157 | 133,052,221 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv75557 | 2 | NA12414 | Oligo aCGH | Probe signal intensity | Pass |