esv2750577
- 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:1,972
- 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: 154 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 4 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2750577 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 78,635,603 | 78,636,549 | 78,636,550 | 78,637,574 |
| esv2750577 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 78,927,945 | 78,928,891 | 78,928,892 | 78,929,916 |
| esv2750577 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 76,715,000 | 76,715,946 | 76,715,947 | 76,716,971 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv101394 | copy number loss | 21805 | Oligo aCGH | Probe signal intensity | 154 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv101394 | Remapped | Perfect | NC_000015.10:g.(78 635603_78636549)_( 78636550_78637574) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 78,635,603 | 78,636,549 | 78,636,550 | 78,637,574 |
| essv101394 | Remapped | Perfect | NC_000015.9:g.(789 27945_78928891)_(7 8928892_78929916)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 78,927,945 | 78,928,891 | 78,928,892 | 78,929,916 |
| essv101394 | Submitted genomic | NC_000015.8:g.(767 15000_76715946)_(7 6715947_76716971)d el | NCBI35 (hg17) | NC_000015.8 | Chr15 | 76,715,000 | 76,715,946 | 76,715,947 | 76,716,971 |