esv3559559
- Organism: Homo sapiens
- Study:estd215 (GoNL)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:190
- Publication(s):Boomsma et al. 2013
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 18 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 384 SVs from 18 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 | Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| esv3559559 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 56,858,354 | 56,858,379 | 56,858,543 |
| esv3559559 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646209.1 | ChrY|NW_00 9646209.1 | 71,602 | 71,627 | 71,791 |
| esv3559559 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 59,004,501 | 59,004,526 | 59,004,690 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9758306 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| essv9758306 | Remapped | Perfect | NW_009646209.1:g.( 71602_71627)_71791 del | GRCh38.p12 | Second Pass | NW_009646209.1 | ChrY|NW_00 9646209.1 | 71,602 | 71,627 | 71,791 |
| essv9758306 | Remapped | Perfect | NC_000024.10:g.(56 858354_56858379)_5 6858543del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 56,858,354 | 56,858,379 | 56,858,543 |
| essv9758306 | Submitted genomic | NC_000024.9:g.(590 04501_59004526)_59 004690del185 | GRCh37 (hg19) | NC_000024.9 | ChrY | 59,004,501 | 59,004,526 | 59,004,690 |