esv5530
- 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:3,476
- 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: 383 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 384 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 104 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv5530 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 11,324,923 | 11,325,451 | 11,328,169 | 11,328,398 |
| esv5530 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_015495300.1 | Chr4|NW_01 5495300.1 | - | 204,462 | 207,071 | 207,071 |
| esv5530 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000024.9 | ChrY | 13,480,599 | 13,481,127 | 13,483,845 | 13,484,074 |
| esv5530 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000024.8 | ChrY | 11,940,599 | 11,941,127 | 11,943,845 | 11,944,074 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv27971 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv27971 | Remapped | Pass | NW_015495300.1:g.( ?_204462)_(207071_ 207071)del | GRCh38.p12 | Second Pass | NW_015495300.1 | Chr4|NW_01 5495300.1 | - | 204,462 | 207,071 | 207,071 |
| essv27971 | Remapped | Perfect | NC_000024.10:g.(11 324923_11325451)_( 11328169_11328398) del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 11,324,923 | 11,325,451 | 11,328,169 | 11,328,398 |
| essv27971 | Remapped | Perfect | NC_000024.9:g.(134 80599_13481127)_(1 3483845_13484074)d el | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 13,480,599 | 13,481,127 | 13,483,845 | 13,484,074 |
| essv27971 | Submitted genomic | NC_000024.8:g.(119 40599_11941127)_(1 1943845_11944074)d el | NCBI36 (hg18) | NC_000024.8 | ChrY | 11,940,599 | 11,941,127 | 11,943,845 | 11,944,074 |