esv3645973
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:22
- 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: 110 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 24 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3645973 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
esv3645973 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
essv16197398 | sva insertion | SAMN00006337 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,882 |
essv16197399 | sva insertion | SAMN00006340 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,731 |
essv16197400 | sva insertion | SAMN00004661 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,731 |
essv16197401 | sva insertion | SAMN00004675 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,600 |
essv16197402 | sva insertion | SAMN00016971 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,465 |
essv16197403 | sva insertion | SAMN00006346 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,602 |
essv16197404 | sva insertion | SAMN00006362 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,917 |
essv16197405 | sva insertion | SAMN00009102 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,537 |
essv16197406 | sva insertion | SAMN00006408 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,406 |
essv16197407 | sva insertion | SAMN00006571 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,607 |
essv16197408 | sva insertion | SAMN00009153 | Sequencing | Read depth and paired-end mapping | Heterozygous | 3,028 |
essv16197409 | sva insertion | SAMN00009189 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,550 |
essv16197410 | sva insertion | SAMN00009192 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,676 |
essv16197411 | sva insertion | SAMN00249860 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,613 |
essv16197412 | sva insertion | SAMN00249949 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,647 |
essv16197413 | sva insertion | SAMN01091155 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,781 |
essv16197414 | sva insertion | SAMN00780008 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,701 |
essv16197415 | sva insertion | SAMN00800258 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,935 |
essv16197416 | sva insertion | SAMN00801646 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,822 |
essv16197417 | sva insertion | SAMN00001029 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,970 |
essv16197418 | sva insertion | SAMN00007726 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,691 |
essv16197419 | sva insertion | SAMN00007901 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,768 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv16197398 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197399 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197400 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197401 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197402 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197403 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197404 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197405 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197406 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197407 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197408 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197409 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197410 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197411 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197412 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197413 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197414 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197415 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197416 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197417 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197418 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197419 | Remapped | Perfect | NC_000020.11:g.475 89831_47589832ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,589,831 | 47,589,831 |
essv16197398 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197399 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197400 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197401 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197402 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197403 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197404 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197405 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197406 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197407 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197408 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197409 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197410 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197411 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197412 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197413 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197414 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197415 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197416 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197417 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197418 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 | ||
essv16197419 | Submitted genomic | NC_000020.10:g.462 18575_46218576ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 46,218,575 | 46,218,575 |