esv3549491
- 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:50,182
- 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: 321 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 321 SVs from 58 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3549491 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 82,772,222 | 82,775,505 | 82,819,112 | 82,822,403 |
esv3549491 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 83,166,001 | 83,169,284 | 83,212,891 | 83,216,182 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv9748238 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
essv9748238 | Remapped | Perfect | NC_000012.12:g.(82 772222_82775505)_( 82819112_82822403) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 82,772,222 | 82,775,505 | 82,819,112 | 82,822,403 |
essv9748238 | Submitted genomic | NC_000012.11:g.(83 166001_83169284)_( 83212891_83216182) del46035 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 83,166,001 | 83,169,284 | 83,212,891 | 83,216,182 |