esv3890608
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:7
- 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: 195 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3890608 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 9,334,584 | 9,334,584 |
| esv3890608 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 9,487,180 | 9,487,180 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25772077 | mobile element insertion | SAMN00630242 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,516 |
| essv25772078 | mobile element insertion | SAMN00630249 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,770 |
| essv25772079 | mobile element insertion | SAMN01761211 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,325 |
| essv25772080 | mobile element insertion | SAMN01090864 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,852 |
| essv25772081 | mobile element insertion | SAMN01761289 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,241 |
| essv25772082 | mobile element insertion | SAMN00001121 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,030 |
| essv25772083 | mobile element insertion | SAMN00006620 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,044 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25772077 | Remapped | Perfect | NC_000012.12:g.933 4584_9334585ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 9,334,584 | 9,334,584 |
| essv25772078 | Remapped | Perfect | NC_000012.12:g.933 4584_9334585ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 9,334,584 | 9,334,584 |
| essv25772079 | Remapped | Perfect | NC_000012.12:g.933 4584_9334585ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 9,334,584 | 9,334,584 |
| essv25772080 | Remapped | Perfect | NC_000012.12:g.933 4584_9334585ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 9,334,584 | 9,334,584 |
| essv25772081 | Remapped | Perfect | NC_000012.12:g.933 4584_9334585ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 9,334,584 | 9,334,584 |
| essv25772082 | Remapped | Perfect | NC_000012.12:g.933 4584_9334585ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 9,334,584 | 9,334,584 |
| essv25772083 | Remapped | Perfect | NC_000012.12:g.933 4584_9334585ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 9,334,584 | 9,334,584 |
| essv25772077 | Submitted genomic | NC_000012.11:g.948 7180_9487181ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 9,487,180 | 9,487,180 | ||
| essv25772078 | Submitted genomic | NC_000012.11:g.948 7180_9487181ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 9,487,180 | 9,487,180 | ||
| essv25772079 | Submitted genomic | NC_000012.11:g.948 7180_9487181ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 9,487,180 | 9,487,180 | ||
| essv25772080 | Submitted genomic | NC_000012.11:g.948 7180_9487181ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 9,487,180 | 9,487,180 | ||
| essv25772081 | Submitted genomic | NC_000012.11:g.948 7180_9487181ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 9,487,180 | 9,487,180 | ||
| essv25772082 | Submitted genomic | NC_000012.11:g.948 7180_9487181ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 9,487,180 | 9,487,180 | ||
| essv25772083 | Submitted genomic | NC_000012.11:g.948 7180_9487181ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 9,487,180 | 9,487,180 |