esv3890584
- 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: 185 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3890584 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 8,462,358 | 8,462,358 |
| esv3890584 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 8,614,954 | 8,614,954 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25765331 | mobile element insertion | SAMN01090941 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,580 |
| essv25765332 | mobile element insertion | SAMN00001680 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,502 |
| essv25765333 | mobile element insertion | SAMN00001689 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,573 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25765331 | Remapped | Perfect | NC_000012.12:g.846 2358_8462359ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 8,462,358 | 8,462,358 |
| essv25765332 | Remapped | Perfect | NC_000012.12:g.846 2358_8462359ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 8,462,358 | 8,462,358 |
| essv25765333 | Remapped | Perfect | NC_000012.12:g.846 2358_8462359ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 8,462,358 | 8,462,358 |
| essv25765331 | Submitted genomic | NC_000012.11:g.861 4954_8614955ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,614,954 | 8,614,954 | ||
| essv25765332 | Submitted genomic | NC_000012.11:g.861 4954_8614955ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,614,954 | 8,614,954 | ||
| essv25765333 | Submitted genomic | NC_000012.11:g.861 4954_8614955ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,614,954 | 8,614,954 |