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dbVar

Database of genomic structural variation

esv3888273

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:17,337

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: 489 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):12,448,396-12,465,749

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3888273	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
esv3888273	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25184521	deletion	HG00179	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,095
essv25184522	deletion	HG00310	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,585
essv25184523	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25184524	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25184525	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25184526	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25184527	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25184528	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25184529	deletion	NA20533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,922

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25184521	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv25184522	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv25184523	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv25184524	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv25184525	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv25184526	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv25184527	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv25184528	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv25184529	Remapped	Perfect	NC_000023.11:g.(12 448396_12448413)_( 12465732_12465749) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	12,448,404 (-8, +9)	12,465,740 (-8, +9)
essv25184521	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv25184522	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv25184523	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv25184524	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv25184525	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv25184526	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv25184527	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv25184528	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)
essv25184529	Submitted genomic		NC_000023.10:g.(12 466515_12466532)_( 12483851_12483868) del	GRCh37 (hg19)		NC_000023.10	ChrX	12,466,523 (-8, +9)	12,483,859 (-8, +9)

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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