esv17561
- 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:75,232
- 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: 601 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 601 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 226 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv17561 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,736,108 | 189,811,339 |
| esv17561 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 189,705,238 | 189,780,469 |
| esv17561 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 187,971,861 | 188,047,092 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv40744 | Remapped | Perfect | NC_000001.11:g.(?_ 189736108)_(189811 339_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,736,108 | 189,811,339 |
| essv40744 | Remapped | Perfect | NC_000001.10:g.(?_ 189705238)_(189780 469_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,705,238 | 189,780,469 |
| essv40744 | Submitted genomic | NC_000001.9:g.(?_1 87971861)_(1880470 92_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,971,861 | 188,047,092 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv40744 | 2 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |