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dbVar

Database of genomic structural variation

esv3888404

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:46,227

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: 518 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):21,281,764-21,329,990

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3888404	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	21,282,764 (-1000, +500)	21,328,990 (-500, +1000)
esv3888404	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	21,300,882 (-1000, +500)	21,347,108 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25219765	deletion	HG00154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv25219766	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25219767	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25219768	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25219769	deletion	NA18991	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,499
essv25219770	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25219771	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25219772	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25219773	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
essv25219765	Remapped	Perfect	NC_000023.11:g.(21 281764_21283264)_( 21328490_21329990) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	21,282,764 (-1000, +500)	21,328,990 (-500, +1000)
essv25219766	Remapped	Perfect	NC_000023.11:g.(21 281764_21283264)_( 21328490_21329990) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	21,282,764 (-1000, +500)	21,328,990 (-500, +1000)
essv25219767	Remapped	Perfect	NC_000023.11:g.(21 281764_21283264)_( 21328490_21329990) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	21,282,764 (-1000, +500)	21,328,990 (-500, +1000)
essv25219768	Remapped	Perfect	NC_000023.11:g.(21 281764_21283264)_( 21328490_21329990) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	21,282,764 (-1000, +500)	21,328,990 (-500, +1000)
essv25219769	Remapped	Perfect	NC_000023.11:g.(21 281764_21283264)_( 21328490_21329990) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	21,282,764 (-1000, +500)	21,328,990 (-500, +1000)
essv25219770	Remapped	Perfect	NC_000023.11:g.(21 281764_21283264)_( 21328490_21329990) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	21,282,764 (-1000, +500)	21,328,990 (-500, +1000)
essv25219771	Remapped	Perfect	NC_000023.11:g.(21 281764_21283264)_( 21328490_21329990) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	21,282,764 (-1000, +500)	21,328,990 (-500, +1000)
essv25219772	Remapped	Perfect	NC_000023.11:g.(21 281764_21283264)_( 21328490_21329990) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	21,282,764 (-1000, +500)	21,328,990 (-500, +1000)
essv25219773	Remapped	Perfect	NC_000023.11:g.(21 281764_21283264)_( 21328490_21329990) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	21,282,764 (-1000, +500)	21,328,990 (-500, +1000)
essv25219765	Submitted genomic		NC_000023.10:g.(21 299882_21301382)_( 21346608_21348108) del	GRCh37 (hg19)		NC_000023.10	ChrX	21,300,882 (-1000, +500)	21,347,108 (-500, +1000)
essv25219766	Submitted genomic		NC_000023.10:g.(21 299882_21301382)_( 21346608_21348108) del	GRCh37 (hg19)		NC_000023.10	ChrX	21,300,882 (-1000, +500)	21,347,108 (-500, +1000)
essv25219767	Submitted genomic		NC_000023.10:g.(21 299882_21301382)_( 21346608_21348108) del	GRCh37 (hg19)		NC_000023.10	ChrX	21,300,882 (-1000, +500)	21,347,108 (-500, +1000)
essv25219768	Submitted genomic		NC_000023.10:g.(21 299882_21301382)_( 21346608_21348108) del	GRCh37 (hg19)		NC_000023.10	ChrX	21,300,882 (-1000, +500)	21,347,108 (-500, +1000)
essv25219769	Submitted genomic		NC_000023.10:g.(21 299882_21301382)_( 21346608_21348108) del	GRCh37 (hg19)		NC_000023.10	ChrX	21,300,882 (-1000, +500)	21,347,108 (-500, +1000)
essv25219770	Submitted genomic		NC_000023.10:g.(21 299882_21301382)_( 21346608_21348108) del	GRCh37 (hg19)		NC_000023.10	ChrX	21,300,882 (-1000, +500)	21,347,108 (-500, +1000)
essv25219771	Submitted genomic		NC_000023.10:g.(21 299882_21301382)_( 21346608_21348108) del	GRCh37 (hg19)		NC_000023.10	ChrX	21,300,882 (-1000, +500)	21,347,108 (-500, +1000)
essv25219772	Submitted genomic		NC_000023.10:g.(21 299882_21301382)_( 21346608_21348108) del	GRCh37 (hg19)		NC_000023.10	ChrX	21,300,882 (-1000, +500)	21,347,108 (-500, +1000)
essv25219773	Submitted genomic		NC_000023.10:g.(21 299882_21301382)_( 21346608_21348108) del	GRCh37 (hg19)		NC_000023.10	ChrX	21,300,882 (-1000, +500)	21,347,108 (-500, +1000)

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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