esv3567552
- 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:60,650
- 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: 4365 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 4365 SVs from 98 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3567552 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,483,574 | 32,489,895 | 32,533,435 | 32,544,223 |
esv3567552 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 32,451,351 | 32,457,672 | 32,501,212 | 32,512,000 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv9766299 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
essv9766299 | Remapped | Perfect | NC_000006.12:g.(32 483574_32489895)_( 32533435_32544223) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,483,574 | 32,489,895 | 32,533,435 | 32,544,223 |
essv9766299 | Submitted genomic | NC_000006.11:g.(32 451351_32457672)_( 32501212_32512000) del49861 | GRCh37 (hg19) | NC_000006.11 | Chr6 | 32,451,351 | 32,457,672 | 32,501,212 | 32,512,000 |