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dbVar

Database of genomic structural variation

esv3819728

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:31,664

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

Remapped(Score: Perfect):76,916,383-76,949,046

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3819728	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	76,916,883 (-500, +0)	76,948,546 (-0, +500)
esv3819728	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	77,382,568 (-500, +0)	77,414,231 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv17112186	deletion	NA18534	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,434

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv17112186	Remapped	Perfect	NC_000001.11:g.(76 916383_76916883)_( 76948546_76949046) del	GRCh38.p12	First Pass	NC_000001.11	Chr1	76,916,883 (-500, +0)	76,948,546 (-0, +500)
essv17112186	Submitted genomic		NC_000001.10:g.(77 382068_77382568)_( 77414231_77414731) del	GRCh37 (hg19)		NC_000001.10	Chr1	77,382,568 (-500, +0)	77,414,231 (-0, +500)

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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