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

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
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

dbVar

Database of genomic structural variation

esv3886304

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.