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dbVar

Database of genomic structural variation

esv3890079

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: 410 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):130,466,534-130,466,534

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890079	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	130,466,534	130,466,534
esv3890079	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	129,600,508	129,600,508

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25620573	line1 insertion	HG01800	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,324
essv25620574	line1 insertion	HG01849	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,609
essv25620575	line1 insertion	NA18552	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,215
essv25620576	line1 insertion	NA18564	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,475
essv25620577	line1 insertion	NA18968	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,115
essv25620578	line1 insertion	NA18970	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,526
essv25620579	line1 insertion	NA18981	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,135

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25620573	Remapped	Perfect	NC_000023.11:g.130 466534_130466535in s2005	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,466,534	130,466,534
essv25620574	Remapped	Perfect	NC_000023.11:g.130 466534_130466535in s2005	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,466,534	130,466,534
essv25620575	Remapped	Perfect	NC_000023.11:g.130 466534_130466535in s2005	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,466,534	130,466,534
essv25620576	Remapped	Perfect	NC_000023.11:g.130 466534_130466535in s2005	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,466,534	130,466,534
essv25620577	Remapped	Perfect	NC_000023.11:g.130 466534_130466535in s2005	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,466,534	130,466,534
essv25620578	Remapped	Perfect	NC_000023.11:g.130 466534_130466535in s2005	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,466,534	130,466,534
essv25620579	Remapped	Perfect	NC_000023.11:g.130 466534_130466535in s2005	GRCh38.p12	First Pass	NC_000023.11	ChrX	130,466,534	130,466,534
essv25620573	Submitted genomic		NC_000023.10:g.129 600508_129600509in s2005	GRCh37 (hg19)		NC_000023.10	ChrX	129,600,508	129,600,508
essv25620574	Submitted genomic		NC_000023.10:g.129 600508_129600509in s2005	GRCh37 (hg19)		NC_000023.10	ChrX	129,600,508	129,600,508
essv25620575	Submitted genomic		NC_000023.10:g.129 600508_129600509in s2005	GRCh37 (hg19)		NC_000023.10	ChrX	129,600,508	129,600,508
essv25620576	Submitted genomic		NC_000023.10:g.129 600508_129600509in s2005	GRCh37 (hg19)		NC_000023.10	ChrX	129,600,508	129,600,508
essv25620577	Submitted genomic		NC_000023.10:g.129 600508_129600509in s2005	GRCh37 (hg19)		NC_000023.10	ChrX	129,600,508	129,600,508
essv25620578	Submitted genomic		NC_000023.10:g.129 600508_129600509in s2005	GRCh37 (hg19)		NC_000023.10	ChrX	129,600,508	129,600,508
essv25620579	Submitted genomic		NC_000023.10:g.129 600508_129600509in s2005	GRCh37 (hg19)		NC_000023.10	ChrX	129,600,508	129,600,508

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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