esv32958
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43,407
- Publication(s):de Smith et al. 2007
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: 273 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 273 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv32958 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 62,889,862 | 62,933,268 |
| esv32958 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 61,521,214 | 61,564,620 |
| esv32958 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000020.9 | Chr20 | 60,991,659 | 61,035,065 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv94135 | copy number loss | 21802 | Oligo aCGH | Probe signal intensity | 176 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv94135 | Remapped | Perfect | NC_000020.11:g.(62 803021_62889862)_( 62933268_63000873) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 62,803,021 | 62,889,862 | 62,933,268 | 63,000,873 |
| essv94135 | Remapped | Perfect | NC_000020.10:g.(61 434373_61521214)_( 61564620_61632225) del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 61,434,373 | 61,521,214 | 61,564,620 | 61,632,225 |
| essv94135 | Submitted genomic | NC_000020.9:g.(609 04818_60991659)_(6 1035065_61102670)d el | NCBI35 (hg17) | NC_000020.9 | Chr20 | 60,904,818 | 60,991,659 | 61,035,065 | 61,102,670 |