esv3552294
- 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:56,078
- 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: 517 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 517 SVs from 75 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3552294 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 34,637,300 | 34,640,434 | 34,690,446 | 34,693,377 |
esv3552294 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 34,929,501 | 34,932,635 | 34,982,647 | 34,985,578 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv9751041 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv9751041 | Remapped | Perfect | NC_000015.10:g.(34 637300_34640434)_( 34690446_34693377) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 34,637,300 | 34,640,434 | 34,690,446 | 34,693,377 |
essv9751041 | Submitted genomic | NC_000015.9:g.(349 29501_34932635)_(3 4982647_34985578)d el53318 | GRCh37 (hg19) | NC_000015.9 | Chr15 | 34,929,501 | 34,932,635 | 34,982,647 | 34,985,578 |