esv6702
- 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:3,750
- 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: 388 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 389 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 108 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv6702 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 11,324,569 | 11,324,713 | 11,327,662 | 11,328,318 |
| esv6702 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_015495300.1 | Chr4|NW_01 5495300.1 | - | 204,462 | 206,989 | - |
| esv6702 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000024.9 | ChrY | 13,480,245 | 13,480,389 | 13,483,338 | 13,483,994 |
| esv6702 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000024.8 | ChrY | 11,940,245 | 11,940,389 | 11,943,338 | 11,943,994 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv29143 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv29143 | Remapped | Pass | NW_015495300.1:g.( ?_204462)_(206989_ ?)del | GRCh38.p12 | Second Pass | NW_015495300.1 | Chr4|NW_01 5495300.1 | - | 204,462 | 206,989 | - |
| essv29143 | Remapped | Perfect | NC_000024.10:g.(11 324569_11324713)_( 11327662_11328318) del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 11,324,569 | 11,324,713 | 11,327,662 | 11,328,318 |
| essv29143 | Remapped | Perfect | NC_000024.9:g.(134 80245_13480389)_(1 3483338_13483994)d el | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 13,480,245 | 13,480,389 | 13,483,338 | 13,483,994 |
| essv29143 | Submitted genomic | NC_000024.8:g.(119 40245_11940389)_(1 1943338_11943994)d el | NCBI36 (hg18) | NC_000024.8 | ChrY | 11,940,245 | 11,940,389 | 11,943,338 | 11,943,994 |