esv3690240
- Organism: Homo sapiens
- Study:estd220 (Pettigrew et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:107,331
- Publication(s):Pettigrew et al. 2015
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: 399 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 401 SVs from 54 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3690240 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 175,715,447 | 175,715,447 | 175,808,967 | 175,822,777 |
| esv3690240 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 175,684,583 | 175,684,583 | 175,778,103 | 175,791,913 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16504547 | duplication | TD-01 | SNP array | SNP genotyping analysis | 69 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16504547 | Remapped | Perfect | NC_000001.11:g.(17 5715447_175715447) _(175808967_175822 777)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 175,715,447 | 175,715,447 | 175,808,967 | 175,822,777 |
| essv16504547 | Submitted genomic | NC_000001.10:g.(17 5684583_175684583) _(175778103_175791 913)dup93520 | GRCh37 (hg19) | NC_000001.10 | Chr1 | 175,684,583 | 175,684,583 | 175,778,103 | 175,791,913 |