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dbVar

Database of genomic structural variation

esv3867097

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:8
Validation:Not tested
Clinical Assertions: No
Region Size:14,271

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: 267 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):33,568,801-33,583,080

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3867097	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	33,568,805 (-4, +5)	33,583,075 (-4, +5)
esv3867097	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	33,721,740 (-4, +5)	33,736,010 (-4, +5)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22778444	deletion	HG01167	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,580
essv22778445	deletion	HG02398	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,696
essv22778446	deletion	HG02763	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,095
essv22778447	deletion	HG02888	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,709
essv22778448	deletion	HG02982	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,258
essv22778449	deletion	NA19098	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,311
essv22778450	deletion	NA19137	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,986
essv22778451	deletion	NA20346	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,389

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22778444	Remapped	Perfect	NC_000012.12:g.(33 568801_33568810)_( 33583071_33583080) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	33,568,805 (-4, +5)	33,583,075 (-4, +5)
essv22778445	Remapped	Perfect	NC_000012.12:g.(33 568801_33568810)_( 33583071_33583080) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	33,568,805 (-4, +5)	33,583,075 (-4, +5)
essv22778446	Remapped	Perfect	NC_000012.12:g.(33 568801_33568810)_( 33583071_33583080) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	33,568,805 (-4, +5)	33,583,075 (-4, +5)
essv22778447	Remapped	Perfect	NC_000012.12:g.(33 568801_33568810)_( 33583071_33583080) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	33,568,805 (-4, +5)	33,583,075 (-4, +5)
essv22778448	Remapped	Perfect	NC_000012.12:g.(33 568801_33568810)_( 33583071_33583080) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	33,568,805 (-4, +5)	33,583,075 (-4, +5)
essv22778449	Remapped	Perfect	NC_000012.12:g.(33 568801_33568810)_( 33583071_33583080) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	33,568,805 (-4, +5)	33,583,075 (-4, +5)
essv22778450	Remapped	Perfect	NC_000012.12:g.(33 568801_33568810)_( 33583071_33583080) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	33,568,805 (-4, +5)	33,583,075 (-4, +5)
essv22778451	Remapped	Perfect	NC_000012.12:g.(33 568801_33568810)_( 33583071_33583080) del	GRCh38.p12	First Pass	NC_000012.12	Chr12	33,568,805 (-4, +5)	33,583,075 (-4, +5)
essv22778444	Submitted genomic		NC_000012.11:g.(33 721736_33721745)_( 33736006_33736015) del	GRCh37 (hg19)		NC_000012.11	Chr12	33,721,740 (-4, +5)	33,736,010 (-4, +5)
essv22778445	Submitted genomic		NC_000012.11:g.(33 721736_33721745)_( 33736006_33736015) del	GRCh37 (hg19)		NC_000012.11	Chr12	33,721,740 (-4, +5)	33,736,010 (-4, +5)
essv22778446	Submitted genomic		NC_000012.11:g.(33 721736_33721745)_( 33736006_33736015) del	GRCh37 (hg19)		NC_000012.11	Chr12	33,721,740 (-4, +5)	33,736,010 (-4, +5)
essv22778447	Submitted genomic		NC_000012.11:g.(33 721736_33721745)_( 33736006_33736015) del	GRCh37 (hg19)		NC_000012.11	Chr12	33,721,740 (-4, +5)	33,736,010 (-4, +5)
essv22778448	Submitted genomic		NC_000012.11:g.(33 721736_33721745)_( 33736006_33736015) del	GRCh37 (hg19)		NC_000012.11	Chr12	33,721,740 (-4, +5)	33,736,010 (-4, +5)
essv22778449	Submitted genomic		NC_000012.11:g.(33 721736_33721745)_( 33736006_33736015) del	GRCh37 (hg19)		NC_000012.11	Chr12	33,721,740 (-4, +5)	33,736,010 (-4, +5)
essv22778450	Submitted genomic		NC_000012.11:g.(33 721736_33721745)_( 33736006_33736015) del	GRCh37 (hg19)		NC_000012.11	Chr12	33,721,740 (-4, +5)	33,736,010 (-4, +5)
essv22778451	Submitted genomic		NC_000012.11:g.(33 721736_33721745)_( 33736006_33736015) del	GRCh37 (hg19)		NC_000012.11	Chr12	33,721,740 (-4, +5)	33,736,010 (-4, +5)

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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