esv3817844
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- 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: 431 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 431 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3817844 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 96,913,117 | 96,913,117 |
| esv3817844 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 96,168,116 | 96,168,116 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv16930084 | mobile element insertion | SAMN00001054 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,219 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16930084 | Remapped | Perfect | NC_000023.11:g.969 13117_96913118ins? | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 96,913,117 | 96,913,117 |
| essv16930084 | Submitted genomic | NC_000023.10:g.961 68116_96168117ins? | GRCh37 (hg19) | NC_000023.10 | ChrX | 96,168,116 | 96,168,116 |