esv32797
- 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:41,576
- 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: 431 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 431 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv32797 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 5,067,210 | 5,108,785 |
| esv32797 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 5,127,270 | 5,168,845 |
| esv32797 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 5,037,643 | 5,079,218 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv101012 | copy number loss | 21693 | Oligo aCGH | Probe signal intensity | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv101012 | Remapped | Perfect | NC_000001.11:g.(50 20601_5067210)_(51 08785_5109223)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,020,601 | 5,067,210 | 5,108,785 | 5,109,223 |
| essv101012 | Remapped | Perfect | NC_000001.10:g.(50 80661_5127270)_(51 68845_5169283)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,080,661 | 5,127,270 | 5,168,845 | 5,169,283 |
| essv101012 | Submitted genomic | NC_000001.8:g.(499 1034_5037643)_(507 9218_5079656)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 4,991,034 | 5,037,643 | 5,079,218 | 5,079,656 |