esv3646573

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
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 Project Consortium et al. 2015

Links to Other Resources

Overlapping Genes

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

Remapped(Score: Perfect):21,374,909-21,374,909

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3646573	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
esv3646573	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
essv16279488	sva insertion	SAMN00006432	Sequencing	Read depth and paired-end mapping	Heterozygous	2,258
essv16279489	sva insertion	SAMN00006486	Sequencing	Read depth and paired-end mapping	Heterozygous	2,773
essv16279490	sva insertion	SAMN00006510	Sequencing	Read depth and paired-end mapping	Heterozygous	2,790
essv16279491	sva insertion	SAMN00249907	Sequencing	Read depth and paired-end mapping	Heterozygous	2,745
essv16279492	sva insertion	SAMN00249925	Sequencing	Read depth and paired-end mapping	Heterozygous	2,798
essv16279493	sva insertion	SAMN00249832	Sequencing	Read depth and paired-end mapping	Heterozygous	2,718
essv16279494	sva insertion	SAMN00249852	Sequencing	Read depth and paired-end mapping	Heterozygous	2,504
essv16279495	sva insertion	SAMN00249929	Sequencing	Read depth and paired-end mapping	Heterozygous	2,784
essv16279496	sva insertion	SAMN00263050	Sequencing	Read depth and paired-end mapping	Heterozygous	2,870
essv16279497	sva insertion	SAMN01761475	Sequencing	Read depth and paired-end mapping	Heterozygous	3,001
essv16279498	sva insertion	SAMN00001602	Sequencing	Read depth and paired-end mapping	Heterozygous	2,722
essv16279499	sva insertion	SAMN00001636	Sequencing	Read depth and paired-end mapping	Heterozygous	2,845
essv16279500	sva insertion	SAMN00001030	Sequencing	Read depth and paired-end mapping	Heterozygous	2,684
essv16279501	sva insertion	SAMN00000525	Sequencing	Read depth and paired-end mapping	Heterozygous	2,755

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16279488	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279489	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279490	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279491	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279492	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279493	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279494	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279495	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279496	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279497	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279498	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279499	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279500	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279501	Remapped	Perfect	NC_000021.9:g.2137 4909_21374910ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	21,374,909	21,374,909
essv16279488	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279489	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279490	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279491	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279492	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279493	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279494	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279495	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279496	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279497	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279498	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279499	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279500	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229
essv16279501	Submitted genomic		NC_000021.8:g.2274 7229_22747230ins?	GRCh37 (hg19)		NC_000021.8	Chr21	22,747,229	22,747,229

dbVar

Database of genomic structural variation

esv3646573

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.