esv3586532
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- 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: 132 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3586532 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 77,980,556 | 77,980,556 |
| esv3586532 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 78,446,240 | 78,446,240 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv9980990 | sva insertion | SAMN00001639 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,876 |
| essv9980991 | sva insertion | SAMN00001037 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,923 |
| essv9980992 | sva insertion | SAMN00001065 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,781 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9980990 | Remapped | Perfect | NC_000001.11:g.779 80556_77980557ins? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 77,980,556 | 77,980,556 |
| essv9980991 | Remapped | Perfect | NC_000001.11:g.779 80556_77980557ins? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 77,980,556 | 77,980,556 |
| essv9980992 | Remapped | Perfect | NC_000001.11:g.779 80556_77980557ins? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 77,980,556 | 77,980,556 |
| essv9980990 | Submitted genomic | NC_000001.10:g.784 46240_78446241ins? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 78,446,240 | 78,446,240 | ||
| essv9980991 | Submitted genomic | NC_000001.10:g.784 46240_78446241ins? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 78,446,240 | 78,446,240 | ||
| essv9980992 | Submitted genomic | NC_000001.10:g.784 46240_78446241ins? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 78,446,240 | 78,446,240 |