esv3890544
- 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: 160 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3890544 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 7,404,445 | 7,404,445 |
| esv3890544 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 7,557,041 | 7,557,041 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25753973 | mobile element insertion | SAMN00016843 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,664 |
| essv25753974 | mobile element insertion | SAMN00249685 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,730 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25753973 | Remapped | Perfect | NC_000012.12:g.740 4445_7404446ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,404,445 | 7,404,445 |
| essv25753974 | Remapped | Perfect | NC_000012.12:g.740 4445_7404446ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,404,445 | 7,404,445 |
| essv25753973 | Submitted genomic | NC_000012.11:g.755 7041_7557042ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,557,041 | 7,557,041 | ||
| essv25753974 | Submitted genomic | NC_000012.11:g.755 7041_7557042ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,557,041 | 7,557,041 |