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dbVar

Database of genomic structural variation

esv3890509

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:7
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: 451 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):155,762,658-155,762,658

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890509	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	155,762,658	155,762,658
esv3890509	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	154,992,320	154,992,320

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25752961	alu insertion	HG02284	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,143
essv25752962	alu insertion	HG02485	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,523
essv25752963	alu insertion	HG02982	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,258
essv25752964	alu insertion	HG03189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,973
essv25752965	alu insertion	NA18873	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,059
essv25752966	alu insertion	NA19037	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,920
essv25752967	alu insertion	NA19102	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,889

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25752961	Remapped	Perfect	NC_000023.11:g.155 762658_155762659in s276	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,762,658	155,762,658
essv25752962	Remapped	Perfect	NC_000023.11:g.155 762658_155762659in s276	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,762,658	155,762,658
essv25752963	Remapped	Perfect	NC_000023.11:g.155 762658_155762659in s276	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,762,658	155,762,658
essv25752964	Remapped	Perfect	NC_000023.11:g.155 762658_155762659in s276	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,762,658	155,762,658
essv25752965	Remapped	Perfect	NC_000023.11:g.155 762658_155762659in s276	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,762,658	155,762,658
essv25752966	Remapped	Perfect	NC_000023.11:g.155 762658_155762659in s276	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,762,658	155,762,658
essv25752967	Remapped	Perfect	NC_000023.11:g.155 762658_155762659in s276	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,762,658	155,762,658
essv25752961	Submitted genomic		NC_000023.10:g.154 992320_154992321in s276	GRCh37 (hg19)		NC_000023.10	ChrX	154,992,320	154,992,320
essv25752962	Submitted genomic		NC_000023.10:g.154 992320_154992321in s276	GRCh37 (hg19)		NC_000023.10	ChrX	154,992,320	154,992,320
essv25752963	Submitted genomic		NC_000023.10:g.154 992320_154992321in s276	GRCh37 (hg19)		NC_000023.10	ChrX	154,992,320	154,992,320
essv25752964	Submitted genomic		NC_000023.10:g.154 992320_154992321in s276	GRCh37 (hg19)		NC_000023.10	ChrX	154,992,320	154,992,320
essv25752965	Submitted genomic		NC_000023.10:g.154 992320_154992321in s276	GRCh37 (hg19)		NC_000023.10	ChrX	154,992,320	154,992,320
essv25752966	Submitted genomic		NC_000023.10:g.154 992320_154992321in s276	GRCh37 (hg19)		NC_000023.10	ChrX	154,992,320	154,992,320
essv25752967	Submitted genomic		NC_000023.10:g.154 992320_154992321in s276	GRCh37 (hg19)		NC_000023.10	ChrX	154,992,320	154,992,320

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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