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dbVar

Database of genomic structural variation

esv3859773

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:26,132

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: 322 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):19,222,842-19,249,973

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3859773	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	19,223,342 (-500, +0)	19,249,473 (-0, +500)
esv3859773	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	19,512,271 (-500, +0)	19,538,402 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21873920	deletion	HG00238	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,227

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21873920	Remapped	Perfect	NC_000010.11:g.(19 222842_19223342)_( 19249473_19249973) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	19,223,342 (-500, +0)	19,249,473 (-0, +500)
essv21873920	Submitted genomic		NC_000010.10:g.(19 511771_19512271)_( 19538402_19538902) del	GRCh37 (hg19)		NC_000010.10	Chr10	19,512,271 (-500, +0)	19,538,402 (-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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