esv33249
- 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:50,431
- 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: 255 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 255 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33249 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 69,732,271 | 69,782,701 |
| esv33249 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 70,644,506 | 70,694,936 |
| esv33249 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 70,807,060 | 70,857,490 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv98325 | copy number loss | 21772 | Oligo aCGH | Probe signal intensity | 211 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv98325 | Remapped | Perfect | NC_000008.11:g.(69 613411_69732271)_( 69782701_69899228) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 69,613,411 | 69,732,271 | 69,782,701 | 69,899,228 |
| essv98325 | Remapped | Perfect | NC_000008.10:g.(70 525646_70644506)_( 70694936_70811463) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 70,525,646 | 70,644,506 | 70,694,936 | 70,811,463 |
| essv98325 | Submitted genomic | NC_000008.9:g.(706 88200_70807060)_(7 0857490_70974017)d el | NCBI35 (hg17) | NC_000008.9 | Chr8 | 70,688,200 | 70,807,060 | 70,857,490 | 70,974,017 |