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dbVar

Database of genomic structural variation

esv3888814

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:8
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: 432 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):46,487,735-46,487,735

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3888814	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	46,487,735 (-0, +4)	46,487,735 (-4, +0)
esv3888814	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	46,347,170 (-0, +4)	46,347,170 (-4, +0)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25321916	insertion	HG00629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,943
essv25321917	insertion	HG01134	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,536
essv25321918	insertion	HG01507	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,429
essv25321919	insertion	HG01597	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,447
essv25321920	insertion	HG03595	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,342
essv25321921	insertion	NA18964	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,957
essv25321922	insertion	NA18979	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,320
essv25321923	insertion	NA19080	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,988

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25321916	Remapped	Perfect	NC_000023.11:g.(46 487735_46487739)_( 46487731_46487735) ins202	GRCh38.p12	First Pass	NC_000023.11	ChrX	46,487,735 (-0, +4)	46,487,735 (-4, +0)
essv25321917	Remapped	Perfect	NC_000023.11:g.(46 487735_46487739)_( 46487731_46487735) ins202	GRCh38.p12	First Pass	NC_000023.11	ChrX	46,487,735 (-0, +4)	46,487,735 (-4, +0)
essv25321918	Remapped	Perfect	NC_000023.11:g.(46 487735_46487739)_( 46487731_46487735) ins202	GRCh38.p12	First Pass	NC_000023.11	ChrX	46,487,735 (-0, +4)	46,487,735 (-4, +0)
essv25321919	Remapped	Perfect	NC_000023.11:g.(46 487735_46487739)_( 46487731_46487735) ins202	GRCh38.p12	First Pass	NC_000023.11	ChrX	46,487,735 (-0, +4)	46,487,735 (-4, +0)
essv25321920	Remapped	Perfect	NC_000023.11:g.(46 487735_46487739)_( 46487731_46487735) ins202	GRCh38.p12	First Pass	NC_000023.11	ChrX	46,487,735 (-0, +4)	46,487,735 (-4, +0)
essv25321921	Remapped	Perfect	NC_000023.11:g.(46 487735_46487739)_( 46487731_46487735) ins202	GRCh38.p12	First Pass	NC_000023.11	ChrX	46,487,735 (-0, +4)	46,487,735 (-4, +0)
essv25321922	Remapped	Perfect	NC_000023.11:g.(46 487735_46487739)_( 46487731_46487735) ins202	GRCh38.p12	First Pass	NC_000023.11	ChrX	46,487,735 (-0, +4)	46,487,735 (-4, +0)
essv25321923	Remapped	Perfect	NC_000023.11:g.(46 487735_46487739)_( 46487731_46487735) ins202	GRCh38.p12	First Pass	NC_000023.11	ChrX	46,487,735 (-0, +4)	46,487,735 (-4, +0)
essv25321916	Submitted genomic		NC_000023.10:g.(46 347170_46347174)_( 46347166_46347170) ins202	GRCh37 (hg19)		NC_000023.10	ChrX	46,347,170 (-0, +4)	46,347,170 (-4, +0)
essv25321917	Submitted genomic		NC_000023.10:g.(46 347170_46347174)_( 46347166_46347170) ins202	GRCh37 (hg19)		NC_000023.10	ChrX	46,347,170 (-0, +4)	46,347,170 (-4, +0)
essv25321918	Submitted genomic		NC_000023.10:g.(46 347170_46347174)_( 46347166_46347170) ins202	GRCh37 (hg19)		NC_000023.10	ChrX	46,347,170 (-0, +4)	46,347,170 (-4, +0)
essv25321919	Submitted genomic		NC_000023.10:g.(46 347170_46347174)_( 46347166_46347170) ins202	GRCh37 (hg19)		NC_000023.10	ChrX	46,347,170 (-0, +4)	46,347,170 (-4, +0)
essv25321920	Submitted genomic		NC_000023.10:g.(46 347170_46347174)_( 46347166_46347170) ins202	GRCh37 (hg19)		NC_000023.10	ChrX	46,347,170 (-0, +4)	46,347,170 (-4, +0)
essv25321921	Submitted genomic		NC_000023.10:g.(46 347170_46347174)_( 46347166_46347170) ins202	GRCh37 (hg19)		NC_000023.10	ChrX	46,347,170 (-0, +4)	46,347,170 (-4, +0)
essv25321922	Submitted genomic		NC_000023.10:g.(46 347170_46347174)_( 46347166_46347170) ins202	GRCh37 (hg19)		NC_000023.10	ChrX	46,347,170 (-0, +4)	46,347,170 (-4, +0)
essv25321923	Submitted genomic		NC_000023.10:g.(46 347170_46347174)_( 46347166_46347170) ins202	GRCh37 (hg19)		NC_000023.10	ChrX	46,347,170 (-0, +4)	46,347,170 (-4, +0)

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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