esv1000689
- Organism: Homo sapiens
- Study:estd180 (Pang et al. 2010)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,294
- Publication(s):Pang et al. 2010
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: 426 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 426 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 21 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
esv1000689 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 122,600,747 | 122,618,040 |
esv1000689 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 124,360,263 | 124,377,556 |
esv1000689 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 124,350,253 | 124,367,546 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv3565003 | Remapped | Perfect | NC_000010.11:g.(12 2600747_?)_(?_1226 18040)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,600,747 | 122,618,040 |
essv3565003 | Remapped | Perfect | NC_000010.10:g.(12 4360263_?)_(?_1243 77556)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,360,263 | 124,377,556 |
essv3565003 | Submitted genomic | NC_000010.9:g.(124 350253_?)_(?_12436 7546)del14346 | NCBI36 (hg18) | NC_000010.9 | Chr10 | 124,350,253 | 124,367,546 |