esv8645
- 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:228
- 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: 135 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 17 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv8645 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 88,134,510 | 88,134,588 | 88,134,662 | 88,134,737 |
| esv8645 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 89,894,267 | 89,894,345 | 89,894,419 | 89,894,494 |
| esv8645 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 89,884,247 | 89,884,325 | 89,884,399 | 89,884,474 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv31086 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv31086 | Remapped | Perfect | NC_000010.11:g.(88 134510_88134588)_( 88134662_88134737) dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 88,134,510 | 88,134,588 | 88,134,662 | 88,134,737 |
| essv31086 | Remapped | Perfect | NC_000010.10:g.(89 894267_89894345)_( 89894419_89894494) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 89,894,267 | 89,894,345 | 89,894,419 | 89,894,494 |
| essv31086 | Submitted genomic | NC_000010.9:g.(898 84247_89884325)_(8 9884399_89884474)d up | NCBI36 (hg18) | NC_000010.9 | Chr10 | 89,884,247 | 89,884,325 | 89,884,399 | 89,884,474 |