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dbVar

Database of genomic structural variation

esv3845238

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:12,300

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: 150 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):70,929,963-70,942,262

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3845238	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	70,929,963	70,942,262
esv3845238	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	71,639,666	71,651,965

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20212001	copy number loss	HG01872	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,379
essv20212002	copy number loss	NA19089	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,631
essv20212003	copy number gain	HG00118	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,491
essv20212004	copy number gain	HG00478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,595
essv20212005	copy number gain	HG01796	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,389
essv20212006	copy number gain	HG02057	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,188
essv20212007	copy number gain	HG02076	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,530
essv20212008	copy number gain	HG02128	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,574
essv20212009	copy number gain	HG02392	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,638

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20212001	Remapped	Perfect	NC_000006.12:g.709 29963_70942262del	GRCh38.p12	First Pass	NC_000006.12	Chr6	70,929,963	70,942,262
essv20212002	Remapped	Perfect	NC_000006.12:g.709 29963_70942262del	GRCh38.p12	First Pass	NC_000006.12	Chr6	70,929,963	70,942,262
essv20212003	Remapped	Perfect	NC_000006.12:g.709 29963_70942262dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	70,929,963	70,942,262
essv20212004	Remapped	Perfect	NC_000006.12:g.709 29963_70942262dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	70,929,963	70,942,262
essv20212005	Remapped	Perfect	NC_000006.12:g.709 29963_70942262dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	70,929,963	70,942,262
essv20212006	Remapped	Perfect	NC_000006.12:g.709 29963_70942262dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	70,929,963	70,942,262
essv20212007	Remapped	Perfect	NC_000006.12:g.709 29963_70942262dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	70,929,963	70,942,262
essv20212008	Remapped	Perfect	NC_000006.12:g.709 29963_70942262dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	70,929,963	70,942,262
essv20212009	Remapped	Perfect	NC_000006.12:g.709 29963_70942262dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	70,929,963	70,942,262
essv20212001	Submitted genomic		NC_000006.11:g.716 39666_71651965del	GRCh37 (hg19)		NC_000006.11	Chr6	71,639,666	71,651,965
essv20212002	Submitted genomic		NC_000006.11:g.716 39666_71651965del	GRCh37 (hg19)		NC_000006.11	Chr6	71,639,666	71,651,965
essv20212003	Submitted genomic		NC_000006.11:g.716 39666_71651965dup	GRCh37 (hg19)		NC_000006.11	Chr6	71,639,666	71,651,965
essv20212004	Submitted genomic		NC_000006.11:g.716 39666_71651965dup	GRCh37 (hg19)		NC_000006.11	Chr6	71,639,666	71,651,965
essv20212005	Submitted genomic		NC_000006.11:g.716 39666_71651965dup	GRCh37 (hg19)		NC_000006.11	Chr6	71,639,666	71,651,965
essv20212006	Submitted genomic		NC_000006.11:g.716 39666_71651965dup	GRCh37 (hg19)		NC_000006.11	Chr6	71,639,666	71,651,965
essv20212007	Submitted genomic		NC_000006.11:g.716 39666_71651965dup	GRCh37 (hg19)		NC_000006.11	Chr6	71,639,666	71,651,965
essv20212008	Submitted genomic		NC_000006.11:g.716 39666_71651965dup	GRCh37 (hg19)		NC_000006.11	Chr6	71,639,666	71,651,965
essv20212009	Submitted genomic		NC_000006.11:g.716 39666_71651965dup	GRCh37 (hg19)		NC_000006.11	Chr6	71,639,666	71,651,965

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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