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dbVar

Database of genomic structural variation

esv3835707

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:1
Validation:Not tested
Clinical Assertions: No
Region Size:10,635

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: 142 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):73,286,864-73,297,798

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3835707	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	73,287,014 (-150, +150)	73,297,648 (-150, +150)
esv3835707	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	74,152,731 (-150, +150)	74,163,365 (-150, +150)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv18938495	deletion	HG00384	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,272

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv18938495	Remapped	Perfect	NC_000004.12:g.(73 286864_73287164)_( 73297498_73297798) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	73,287,014 (-150, +150)	73,297,648 (-150, +150)
essv18938495	Submitted genomic		NC_000004.11:g.(74 152581_74152881)_( 74163215_74163515) del	GRCh37 (hg19)		NC_000004.11	Chr4	74,152,731 (-150, +150)	74,163,365 (-150, +150)

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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