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dbVar

Database of genomic structural variation

esv3889920

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:5
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: 418 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):120,133,258-120,133,258

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3889920	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	120,133,258	120,133,258
esv3889920	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	119,267,168	119,267,168

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25585923	sva insertion	HG00285	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,117
essv25585924	sva insertion	HG03672	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,546
essv25585925	sva insertion	HG03851	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,486
essv25585926	sva insertion	HG03941	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,506
essv25585927	sva insertion	HG03947	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,213

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25585923	Remapped	Perfect	NC_000023.11:g.120 133258_120133259in s566	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,133,258	120,133,258
essv25585924	Remapped	Perfect	NC_000023.11:g.120 133258_120133259in s566	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,133,258	120,133,258
essv25585925	Remapped	Perfect	NC_000023.11:g.120 133258_120133259in s566	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,133,258	120,133,258
essv25585926	Remapped	Perfect	NC_000023.11:g.120 133258_120133259in s566	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,133,258	120,133,258
essv25585927	Remapped	Perfect	NC_000023.11:g.120 133258_120133259in s566	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,133,258	120,133,258
essv25585923	Submitted genomic		NC_000023.10:g.119 267168_119267169in s566	GRCh37 (hg19)		NC_000023.10	ChrX	119,267,168	119,267,168
essv25585924	Submitted genomic		NC_000023.10:g.119 267168_119267169in s566	GRCh37 (hg19)		NC_000023.10	ChrX	119,267,168	119,267,168
essv25585925	Submitted genomic		NC_000023.10:g.119 267168_119267169in s566	GRCh37 (hg19)		NC_000023.10	ChrX	119,267,168	119,267,168
essv25585926	Submitted genomic		NC_000023.10:g.119 267168_119267169in s566	GRCh37 (hg19)		NC_000023.10	ChrX	119,267,168	119,267,168
essv25585927	Submitted genomic		NC_000023.10:g.119 267168_119267169in s566	GRCh37 (hg19)		NC_000023.10	ChrX	119,267,168	119,267,168

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.

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