esv3544739
- 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:68,861
- 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: 882 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 888 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3544739 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 28,681,347 | 28,682,407 | 28,749,472 | 28,750,207 |
| esv3544739 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 28,681,345 | 28,682,405 | 28,749,470 | 28,750,205 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv9743486 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv9743486 | Remapped | Perfect | NC_000009.12:g.(28 681347_28682407)_( 28749472_28750207) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,681,347 | 28,682,407 | 28,749,472 | 28,750,207 |
| essv9743486 | Submitted genomic | NC_000009.11:g.(28 681345_28682405)_( 28749470_28750205) del67534 | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,681,345 | 28,682,405 | 28,749,470 | 28,750,205 |