esv3647027

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:29
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: 279 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):39,908,212-39,908,212

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3647027	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
esv3647027	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	41,280,137	41,280,137

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16320989	sva insertion	SAMN00004656	Sequencing	Read depth and paired-end mapping	Heterozygous	2,595
essv16320990	sva insertion	SAMN00016980	Sequencing	Read depth and paired-end mapping	Heterozygous	2,748
essv16320991	sva insertion	SAMN00006365	Sequencing	Read depth and paired-end mapping	Heterozygous	2,690
essv16320992	sva insertion	SAMN00009213	Sequencing	Read depth and paired-end mapping	Heterozygous	2,812
essv16320993	sva insertion	SAMN01091115	Sequencing	Read depth and paired-end mapping	Heterozygous	2,894
essv16320994	sva insertion	SAMN01091133	Sequencing	Read depth and paired-end mapping	Heterozygous	2,963
essv16320995	sva insertion	SAMN00016859	Sequencing	Read depth and paired-end mapping	Heterozygous	2,569
essv16320996	sva insertion	SAMN00249878	Sequencing	Read depth and paired-end mapping	Heterozygous	2,680
essv16320997	sva insertion	SAMN00249744	Sequencing	Read depth and paired-end mapping	Heterozygous	2,620
essv16320998	sva insertion	SAMN00255143	Sequencing	Read depth and paired-end mapping	Heterozygous	2,624
essv16320999	sva insertion	SAMN01761364	Sequencing	Read depth and paired-end mapping	Heterozygous	2,891
essv16321000	sva insertion	SAMN00780002	Sequencing	Read depth and paired-end mapping	Heterozygous	2,814
essv16321001	sva insertion	SAMN01761479	Sequencing	Read depth and paired-end mapping	Heterozygous	2,881
essv16321002	sva insertion	SAMN01761602	Sequencing	Read depth and paired-end mapping	Heterozygous	2,854
essv16321003	sva insertion	SAMN01096761	Sequencing	Read depth and paired-end mapping	Heterozygous	2,628
essv16321004	sva insertion	SAMN01761526	Sequencing	Read depth and paired-end mapping	Heterozygous	2,322
essv16321005	sva insertion	SAMN00801241	Sequencing	Read depth and paired-end mapping	Heterozygous	2,534
essv16321006	sva insertion	SAMN00007717	Sequencing	Read depth and paired-end mapping	Heterozygous	2,714
essv16321007	sva insertion	SAMN00007747	Sequencing	Read depth and paired-end mapping	Heterozygous	2,856
essv16321008	sva insertion	SAMN00007756	Sequencing	Read depth and paired-end mapping	Heterozygous	2,641
essv16321009	sva insertion	SAMN00007792	Sequencing	Read depth and paired-end mapping	Heterozygous	2,343
essv16321010	sva insertion	SAMN00001235	Sequencing	Read depth and paired-end mapping	Heterozygous	2,831
essv16321011	sva insertion	SAMN00001280	Sequencing	Read depth and paired-end mapping	Heterozygous	2,840
essv16321012	sva insertion	SAMN00001282	Sequencing	Read depth and paired-end mapping	Heterozygous	2,703
essv16321013	sva insertion	SAMN00007884	Sequencing	Read depth and paired-end mapping	Heterozygous	2,873
essv16321014	sva insertion	SAMN00007887	Sequencing	Read depth and paired-end mapping	Heterozygous	2,864
essv16321015	sva insertion	SAMN00007935	Sequencing	Read depth and paired-end mapping	Heterozygous	2,706
essv16321016	sva insertion	SAMN00007947	Sequencing	Read depth and paired-end mapping	Heterozygous	2,277
essv16321017	sva insertion	SAMN00007974	Sequencing	Read depth and paired-end mapping	Heterozygous	2,844

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16320989	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16320990	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16320991	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16320992	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16320993	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16320994	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16320995	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16320996	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16320997	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16320998	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16320999	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321000	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321001	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321002	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321003	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321004	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321005	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321006	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321007	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321008	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321009	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321010	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321011	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321012	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321013	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321014	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321015	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321016	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16321017	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv16320989	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16320990	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16320991	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16320992	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16320993	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16320994	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16320995	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16320996	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16320997	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16320998	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16320999	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321000	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321001	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321002	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321003	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321004	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321005	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321006	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321007	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321008	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321009	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321010	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321011	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321012	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321013	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321014	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321015	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321016	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv16321017	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137

dbVar

Database of genomic structural variation

esv3647027

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.