esv33582
- 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:49,177
- 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: 266 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33582 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 31,897,349 | 31,946,525 |
| esv33582 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 32,362,950 | 32,412,126 |
| esv33582 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 32,032,043 | 32,081,219 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv98660 | copy number loss | 21606 | Oligo aCGH | Probe signal intensity | 282 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv98660 | Remapped | Perfect | NC_000001.11:g.(31 891454_31897349)_( 31946525_31951725) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 31,891,454 | 31,897,349 | 31,946,525 | 31,951,725 |
| essv98660 | Remapped | Perfect | NC_000001.10:g.(32 357055_32362950)_( 32412126_32417326) del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 32,357,055 | 32,362,950 | 32,412,126 | 32,417,326 |
| essv98660 | Submitted genomic | NC_000001.8:g.(320 26148_32032043)_(3 2081219_32086419)d el | NCBI35 (hg17) | NC_000001.8 | Chr1 | 32,026,148 | 32,032,043 | 32,081,219 | 32,086,419 |