esv3540032
- 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:75,667
- 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: 2655 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2655 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3540032 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,252,954 | 78,265,784 | 78,317,794 | 78,328,620 |
| esv3540032 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 78,962,671 | 78,975,501 | 79,027,511 | 79,038,337 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9738779 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv9738779 | Remapped | Perfect | NC_000006.12:g.(78 252954_78265784)_( 78317794_78328620) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,252,954 | 78,265,784 | 78,317,794 | 78,328,620 |
| essv9738779 | Submitted genomic | NC_000006.11:g.(78 962671_78975501)_( 79027511_79038337) del69267 | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,962,671 | 78,975,501 | 79,027,511 | 79,038,337 |