esv3647937
- 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: 220 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 220 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3647937 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 45,707,696 | 45,707,696 |
| esv3647937 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 46,103,576 | 46,103,576 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16444861 | alu insertion | SAMN00006391 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,641 |
| essv16444862 | alu insertion | SAMN00006580 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,978 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16444861 | Remapped | Perfect | NC_000022.11:g.457 07696_45707697ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 45,707,696 | 45,707,696 |
| essv16444862 | Remapped | Perfect | NC_000022.11:g.457 07696_45707697ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 45,707,696 | 45,707,696 |
| essv16444861 | Submitted genomic | NC_000022.10:g.461 03576_46103577ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 46,103,576 | 46,103,576 | ||
| essv16444862 | Submitted genomic | NC_000022.10:g.461 03576_46103577ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 46,103,576 | 46,103,576 |