esv3646931
- 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: 248 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 248 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3646931 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 34,959,584 | 34,959,584 |
| esv3646931 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 36,331,881 | 36,331,881 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16314922 | line1 insertion | SAMN00014318 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,631 |
| essv16314923 | line1 insertion | SAMN01091111 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,877 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16314922 | Remapped | Perfect | NC_000021.9:g.3495 9584_34959585ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 34,959,584 | 34,959,584 |
| essv16314923 | Remapped | Perfect | NC_000021.9:g.3495 9584_34959585ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 34,959,584 | 34,959,584 |
| essv16314922 | Submitted genomic | NC_000021.8:g.3633 1881_36331882ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 36,331,881 | 36,331,881 | ||
| essv16314923 | Submitted genomic | NC_000021.8:g.3633 1881_36331882ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 36,331,881 | 36,331,881 |