esv3890545
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:6
- 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: 164 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 164 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3890545 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 7,419,126 | 7,419,126 |
| esv3890545 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 7,571,722 | 7,571,722 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25753975 | mobile element insertion | SAMN00630204 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,157 |
| essv25753976 | mobile element insertion | SAMN00630239 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,626 |
| essv25753977 | mobile element insertion | SAMN01090792 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,179 |
| essv25753978 | mobile element insertion | SAMN00001051 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,862 |
| essv25753979 | mobile element insertion | SAMN00001147 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,043 |
| essv25753980 | mobile element insertion | SAMN00004481 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,926 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25753975 | Remapped | Perfect | NC_000012.12:g.741 9126_7419127ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,419,126 | 7,419,126 |
| essv25753976 | Remapped | Perfect | NC_000012.12:g.741 9126_7419127ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,419,126 | 7,419,126 |
| essv25753977 | Remapped | Perfect | NC_000012.12:g.741 9126_7419127ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,419,126 | 7,419,126 |
| essv25753978 | Remapped | Perfect | NC_000012.12:g.741 9126_7419127ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,419,126 | 7,419,126 |
| essv25753979 | Remapped | Perfect | NC_000012.12:g.741 9126_7419127ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,419,126 | 7,419,126 |
| essv25753980 | Remapped | Perfect | NC_000012.12:g.741 9126_7419127ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,419,126 | 7,419,126 |
| essv25753975 | Submitted genomic | NC_000012.11:g.757 1722_7571723ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,571,722 | 7,571,722 | ||
| essv25753976 | Submitted genomic | NC_000012.11:g.757 1722_7571723ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,571,722 | 7,571,722 | ||
| essv25753977 | Submitted genomic | NC_000012.11:g.757 1722_7571723ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,571,722 | 7,571,722 | ||
| essv25753978 | Submitted genomic | NC_000012.11:g.757 1722_7571723ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,571,722 | 7,571,722 | ||
| essv25753979 | Submitted genomic | NC_000012.11:g.757 1722_7571723ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,571,722 | 7,571,722 | ||
| essv25753980 | Submitted genomic | NC_000012.11:g.757 1722_7571723ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,571,722 | 7,571,722 |