esv3546437
- 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:79,000
- 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: 764 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 764 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3546437 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 66,688,743 | 66,689,571 | 66,765,817 | 66,767,742 |
| esv3546437 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 68,448,501 | 68,449,329 | 68,525,575 | 68,527,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9745184 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv9745184 | Remapped | Perfect | NC_000010.11:g.(66 688743_66689571)_( 66765817_66767742) del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,688,743 | 66,689,571 | 66,765,817 | 66,767,742 |
| essv9745184 | Submitted genomic | NC_000010.10:g.(68 448501_68449329)_( 68525575_68527500) del76841 | GRCh37 (hg19) | NC_000010.10 | Chr10 | 68,448,501 | 68,449,329 | 68,525,575 | 68,527,500 |