esv3886802

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:29
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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
esv3886802	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
esv3886802	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
essv24990103	sva insertion	HG00138	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,435
essv24990104	sva insertion	HG00189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,558
essv24990105	sva insertion	HG00261	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,277
essv24990106	sva insertion	HG01259	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,642
essv24990107	sva insertion	HG01435	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,507
essv24990108	sva insertion	HG01556	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,843
essv24990109	sva insertion	HG01707	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,149
essv24990110	sva insertion	HG01773	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,237
essv24990111	sva insertion	HG02090	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,448
essv24990112	sva insertion	HG02235	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,192
essv24990113	sva insertion	HG02651	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,735
essv24990114	sva insertion	HG02657	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,652
essv24990115	sva insertion	HG03603	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,698
essv24990116	sva insertion	HG03871	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,749
essv24990117	sva insertion	HG03947	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,213
essv24990118	sva insertion	HG03985	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,157
essv24990119	sva insertion	NA12156	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,135
essv24990120	sva insertion	NA19664	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,628
essv24990121	sva insertion	NA19717	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,709
essv24990122	sva insertion	NA19726	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,482
essv24990123	sva insertion	NA19783	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,175
essv24990124	sva insertion	NA20515	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,663
essv24990125	sva insertion	NA20761	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,426
essv24990126	sva insertion	NA20763	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,547
essv24990127	sva insertion	NA20850	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,717
essv24990128	sva insertion	NA20853	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv24990129	sva insertion	NA20911	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,534
essv24990130	sva insertion	NA21101	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,880
essv24990131	sva insertion	NA21135	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,675

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24990103	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990104	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990105	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990106	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990107	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990108	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990109	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990110	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990111	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990112	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990113	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990114	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990115	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990116	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990117	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990118	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990119	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990120	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990121	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990122	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990123	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990124	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990125	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990126	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990127	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990128	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990129	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990130	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990131	Remapped	Perfect	NC_000021.9:g.3990 8212_39908213ins15 89	GRCh38.p12	First Pass	NC_000021.9	Chr21	39,908,212	39,908,212
essv24990103	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990104	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990105	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990106	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990107	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990108	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990109	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990110	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990111	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990112	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990113	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990114	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990115	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990116	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990117	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990118	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990119	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990120	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990121	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990122	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990123	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990124	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990125	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990126	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990127	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990128	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990129	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990130	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137
essv24990131	Submitted genomic		NC_000021.8:g.4128 0137_41280138ins15 89	GRCh37 (hg19)		NC_000021.8	Chr21	41,280,137	41,280,137

dbVar

Database of genomic structural variation

esv3886802

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.