esv9732
- Organism: Homo sapiens
- Study:estd19 (Ahn et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:831
- Publication(s):Ahn et al. 2009
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: 189 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 48 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv9732 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 88,379,730 | 88,379,991 | 88,380,284 | 88,380,560 |
| esv9732 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 89,391,959 | 89,392,220 | 89,392,513 | 89,392,789 |
| esv9732 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 89,461,075 | 89,461,336 | 89,461,629 | 89,461,905 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv32173 | copy number loss | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv32173 | Remapped | Perfect | NC_000008.11:g.(88 379730_88379991)_( 88380284_88380560) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 88,379,730 | 88,379,991 | 88,380,284 | 88,380,560 |
| essv32173 | Remapped | Perfect | NC_000008.10:g.(89 391959_89392220)_( 89392513_89392789) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 89,391,959 | 89,392,220 | 89,392,513 | 89,392,789 |
| essv32173 | Submitted genomic | NC_000008.9:g.(894 61075_89461336)_(8 9461629_89461905)d el | NCBI36 (hg18) | NC_000008.9 | Chr8 | 89,461,075 | 89,461,336 | 89,461,629 | 89,461,905 |