esv3586661
- 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: 141 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3586661 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 84,178,242 | 84,178,242 |
| esv3586661 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 84,643,925 | 84,643,925 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv9999372 | alu insertion | SAMN00630215 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,137 |
| essv9999373 | alu insertion | SAMN00001672 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,981 |
| essv9999374 | alu insertion | SAMN00001163 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,750 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9999372 | Remapped | Perfect | NC_000001.11:g.841 78242_84178243ins? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,178,242 | 84,178,242 |
| essv9999373 | Remapped | Perfect | NC_000001.11:g.841 78242_84178243ins? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,178,242 | 84,178,242 |
| essv9999374 | Remapped | Perfect | NC_000001.11:g.841 78242_84178243ins? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,178,242 | 84,178,242 |
| essv9999372 | Submitted genomic | NC_000001.10:g.846 43925_84643926ins? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,643,925 | 84,643,925 | ||
| essv9999373 | Submitted genomic | NC_000001.10:g.846 43925_84643926ins? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,643,925 | 84,643,925 | ||
| essv9999374 | Submitted genomic | NC_000001.10:g.846 43925_84643926ins? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,643,925 | 84,643,925 |