esv3890550
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:16
- 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: 157 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 157 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3890550 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| esv3890550 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25755427 | mobile element insertion | SAMN00009168 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,745 |
| essv25755428 | mobile element insertion | SAMN00255122 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,934 |
| essv25755429 | mobile element insertion | SAMN00249712 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,629 |
| essv25755430 | mobile element insertion | SAMN00630212 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,142 |
| essv25755431 | mobile element insertion | SAMN00630235 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,253 |
| essv25755432 | mobile element insertion | SAMN00779960 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,258 |
| essv25755433 | mobile element insertion | SAMN01036804 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,129 |
| essv25755434 | mobile element insertion | SAMN01090879 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,917 |
| essv25755435 | mobile element insertion | SAMN01090752 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,116 |
| essv25755436 | mobile element insertion | SAMN01090816 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,025 |
| essv25755437 | mobile element insertion | SAMN01090828 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,824 |
| essv25755438 | mobile element insertion | SAMN00000477 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,404 |
| essv25755439 | mobile element insertion | SAMN00000478 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,327 |
| essv25755440 | mobile element insertion | SAMN00001041 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,175 |
| essv25755441 | mobile element insertion | SAMN00000546 | Sequencing | Read depth and paired-end mapping | Homozygous | 3,142 |
| essv25755442 | mobile element insertion | SAMN00007714 | Sequencing | Read depth and paired-end mapping | Homozygous | 2,828 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25755427 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755428 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755429 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755430 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755431 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755432 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755433 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755434 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755435 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755436 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755437 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755438 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755439 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755440 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755441 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755442 | Remapped | Perfect | NC_000012.12:g.747 8701_7478702ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,478,701 | 7,478,701 |
| essv25755427 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755428 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755429 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755430 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755431 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755432 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755433 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755434 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755435 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755436 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755437 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755438 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755439 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755440 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755441 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 | ||
| essv25755442 | Submitted genomic | NC_000012.11:g.763 1297_7631298ins? | GRCh37 (hg19) | NC_000012.11 | Chr12 | 7,631,297 | 7,631,297 |