esv3886304
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 288 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 288 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3886304 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| esv3886304 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv24939636 | sva insertion | HG00403 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,107 |
| essv24939637 | sva insertion | HG00556 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,574 |
| essv24939638 | sva insertion | HG00595 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,666 |
| essv24939639 | sva insertion | HG01798 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,342 |
| essv24939640 | sva insertion | HG01817 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,389 |
| essv24939641 | sva insertion | HG01858 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,322 |
| essv24939642 | sva insertion | HG02086 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,147 |
| essv24939643 | sva insertion | HG02155 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,394 |
| essv24939644 | sva insertion | HG02383 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,716 |
| essv24939645 | sva insertion | HG04180 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,561 |
| essv24939646 | sva insertion | NA18558 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,586 |
| essv24939647 | sva insertion | NA18944 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,706 |
| essv24939648 | sva insertion | NA18982 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,540 |
| essv24939649 | sva insertion | NA19065 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,340 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv24939636 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939637 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939638 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939639 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939640 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939641 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939642 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939643 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939644 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939645 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939646 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939647 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939648 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939649 | Remapped | Perfect | NC_000021.9:g.2137 4909_21374910ins90 3 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,374,909 | 21,374,909 |
| essv24939636 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939637 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939638 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939639 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939640 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939641 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939642 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939643 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939644 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939645 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939646 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939647 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939648 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 | ||
| essv24939649 | Submitted genomic | NC_000021.8:g.2274 7229_22747230ins90 3 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 22,747,229 | 22,747,229 |