esv13991
- 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:20,576
- 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: 348 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 348 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv13991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 55,961,325 | 55,981,900 |
| esv13991 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 55,826,123 | 55,846,698 |
| esv13991 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 55,934,082 | 55,954,657 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv40150 | Remapped | Perfect | NC_000006.12:g.(?_ 55961325)_(5598190 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 55,961,325 | 55,981,900 |
| essv40150 | Remapped | Perfect | NC_000006.11:g.(?_ 55826123)_(5584669 8_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 55,826,123 | 55,846,698 |
| essv40150 | Submitted genomic | NC_000006.10:g.(?_ 55934082)_(5595465 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 55,934,082 | 55,954,657 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv40150 | 2 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |