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dbVar

Database of genomic structural variation

esv3847578

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:4
Validation:Not tested
Clinical Assertions: No
Region Size:55,011

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: 779 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):162,578,005-162,633,015

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3847578	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	162,578,005	162,633,015
esv3847578	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	162,999,037	163,054,047

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv20475532	copy number loss	HG01620	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,188
essv20475533	copy number gain	HG02702	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,121
essv20475534	copy number gain	NA18620	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,684
essv20475535	copy number gain	NA20787	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,600

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv20475532	Remapped	Perfect	NC_000006.12:g.162 578005_162633015de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,578,005	162,633,015
essv20475533	Remapped	Perfect	NC_000006.12:g.162 578005_162633015du p	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,578,005	162,633,015
essv20475534	Remapped	Perfect	NC_000006.12:g.162 578005_162633015du p	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,578,005	162,633,015
essv20475535	Remapped	Perfect	NC_000006.12:g.162 578005_162633015du p	GRCh38.p12	First Pass	NC_000006.12	Chr6	162,578,005	162,633,015
essv20475532	Submitted genomic		NC_000006.11:g.162 999037_163054047de l	GRCh37 (hg19)		NC_000006.11	Chr6	162,999,037	163,054,047
essv20475533	Submitted genomic		NC_000006.11:g.162 999037_163054047du p	GRCh37 (hg19)		NC_000006.11	Chr6	162,999,037	163,054,047
essv20475534	Submitted genomic		NC_000006.11:g.162 999037_163054047du p	GRCh37 (hg19)		NC_000006.11	Chr6	162,999,037	163,054,047
essv20475535	Submitted genomic		NC_000006.11:g.162 999037_163054047du p	GRCh37 (hg19)		NC_000006.11	Chr6	162,999,037	163,054,047

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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