esv3646047
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- 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 Project Consortium 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: 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3646047 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 50,750,921 | 50,750,921 |
| esv3646047 | 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 |
|---|---|---|---|---|---|---|
| essv16199380 | sva insertion | SAMN00009174 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,758 |
| essv16199381 | sva insertion | SAMN00000405 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,820 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16199380 | Remapped | Perfect | NC_000020.11:g.507 50921_50750922ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 50,750,921 | 50,750,921 |
| essv16199381 | Remapped | Perfect | NC_000020.11:g.507 50921_50750922ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 50,750,921 | 50,750,921 |
| essv16199380 | Submitted genomic | NC_000020.10:g.493 67458_49367459ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 49,367,458 | 49,367,458 | ||
| essv16199381 | Submitted genomic | NC_000020.10:g.493 67458_49367459ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 49,367,458 | 49,367,458 |