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dbVar

Database of genomic structural variation

esv3889571

Organism: Homo sapiens

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

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:15,338

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: 453 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):96,020,726-96,036,166

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3889571	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	96,020,777 (-51, +52)	96,036,114 (-51, +52)
esv3889571	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	95,275,776 (-51, +52)	95,291,113 (-51, +52)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25492974	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25492975	deletion	HG03006	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,556
essv25492976	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25492977	deletion	HG03940	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,226
essv25492978	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25492979	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25492980	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25492981	deletion	NA20533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,922
essv25492982	deletion	NA21092	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,352

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25492974	Remapped	Perfect	NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	96,020,777 (-51, +52)	96,036,114 (-51, +52)
essv25492975	Remapped	Perfect	NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	96,020,777 (-51, +52)	96,036,114 (-51, +52)
essv25492976	Remapped	Perfect	NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	96,020,777 (-51, +52)	96,036,114 (-51, +52)
essv25492977	Remapped	Perfect	NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	96,020,777 (-51, +52)	96,036,114 (-51, +52)
essv25492978	Remapped	Perfect	NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	96,020,777 (-51, +52)	96,036,114 (-51, +52)
essv25492979	Remapped	Perfect	NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	96,020,777 (-51, +52)	96,036,114 (-51, +52)
essv25492980	Remapped	Perfect	NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	96,020,777 (-51, +52)	96,036,114 (-51, +52)
essv25492981	Remapped	Perfect	NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	96,020,777 (-51, +52)	96,036,114 (-51, +52)
essv25492982	Remapped	Perfect	NC_000023.11:g.(96 020726_96020829)_( 96036063_96036166) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	96,020,777 (-51, +52)	96,036,114 (-51, +52)
essv25492974	Submitted genomic		NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del	GRCh37 (hg19)		NC_000023.10	ChrX	95,275,776 (-51, +52)	95,291,113 (-51, +52)
essv25492975	Submitted genomic		NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del	GRCh37 (hg19)		NC_000023.10	ChrX	95,275,776 (-51, +52)	95,291,113 (-51, +52)
essv25492976	Submitted genomic		NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del	GRCh37 (hg19)		NC_000023.10	ChrX	95,275,776 (-51, +52)	95,291,113 (-51, +52)
essv25492977	Submitted genomic		NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del	GRCh37 (hg19)		NC_000023.10	ChrX	95,275,776 (-51, +52)	95,291,113 (-51, +52)
essv25492978	Submitted genomic		NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del	GRCh37 (hg19)		NC_000023.10	ChrX	95,275,776 (-51, +52)	95,291,113 (-51, +52)
essv25492979	Submitted genomic		NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del	GRCh37 (hg19)		NC_000023.10	ChrX	95,275,776 (-51, +52)	95,291,113 (-51, +52)
essv25492980	Submitted genomic		NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del	GRCh37 (hg19)		NC_000023.10	ChrX	95,275,776 (-51, +52)	95,291,113 (-51, +52)
essv25492981	Submitted genomic		NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del	GRCh37 (hg19)		NC_000023.10	ChrX	95,275,776 (-51, +52)	95,291,113 (-51, +52)
essv25492982	Submitted genomic		NC_000023.10:g.(95 275725_95275828)_( 95291062_95291165) del	GRCh37 (hg19)		NC_000023.10	ChrX	95,275,776 (-51, +52)	95,291,113 (-51, +52)

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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