esv2672840
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:12,664
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 152 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2672840 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 65,435,520 | 65,435,557 | 65,448,133 | 65,448,183 |
| esv2672840 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 65,902,238 | 65,902,275 | 65,914,851 | 65,914,901 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5450049 | deletion | SAMN00009190 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,097 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5450049 | Remapped | Perfect | NC_000014.9:g.(654 35520_65435557)_(6 5448133_65448183)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 65,435,520 | 65,435,557 | 65,448,133 | 65,448,183 |
| essv5450049 | Submitted genomic | NC_000014.8:g.(659 02238_65902275)_(6 5914851_65914901)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 65,902,238 | 65,902,275 | 65,914,851 | 65,914,901 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5450049 | 7 | SAMN00009190 | SNP array | Probe signal intensity | Pass |