esv3885709
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 109 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3885709 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 50,750,921 | 50,750,921 |
| esv3885709 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 49,367,458 | 49,367,458 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv24854295 | sva insertion | HG01173 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,590 |
| essv24854296 | sva insertion | NA12777 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,619 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv24854295 | Remapped | Perfect | NC_000020.11:g.507 50921_50750922ins1 133 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 50,750,921 | 50,750,921 |
| essv24854296 | Remapped | Perfect | NC_000020.11:g.507 50921_50750922ins1 133 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 50,750,921 | 50,750,921 |
| essv24854295 | Submitted genomic | NC_000020.10:g.493 67458_49367459ins1 133 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 49,367,458 | 49,367,458 | ||
| essv24854296 | Submitted genomic | NC_000020.10:g.493 67458_49367459ins1 133 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 49,367,458 | 49,367,458 |