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dbVar

Database of genomic structural variation

esv3622559

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:18,800

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 315 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):20,541,809-20,561,608

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3622559	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	20,542,309 (-500, +0)	20,561,108 (-0, +500)
esv3622559	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	20,831,238 (-500, +0)	20,850,037 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv13713853	deletion	SAMN00014317	Sequencing	Read depth and paired-end mapping	Heterozygous	2,744
essv13713854	deletion	SAMN00014377	Sequencing	Read depth and paired-end mapping	Heterozygous	2,264
essv13713855	deletion	SAMN00001605	Sequencing	Read depth and paired-end mapping	Heterozygous	2,735

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv13713853	Remapped	Perfect	NC_000010.11:g.(20 541809_20542309)_( 20561108_20561608) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	20,542,309 (-500, +0)	20,561,108 (-0, +500)
essv13713854	Remapped	Perfect	NC_000010.11:g.(20 541809_20542309)_( 20561108_20561608) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	20,542,309 (-500, +0)	20,561,108 (-0, +500)
essv13713855	Remapped	Perfect	NC_000010.11:g.(20 541809_20542309)_( 20561108_20561608) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	20,542,309 (-500, +0)	20,561,108 (-0, +500)
essv13713853	Submitted genomic		NC_000010.10:g.(20 830738_20831238)_( 20850037_20850537) del	GRCh37 (hg19)		NC_000010.10	Chr10	20,831,238 (-500, +0)	20,850,037 (-0, +500)
essv13713854	Submitted genomic		NC_000010.10:g.(20 830738_20831238)_( 20850037_20850537) del	GRCh37 (hg19)		NC_000010.10	Chr10	20,831,238 (-500, +0)	20,850,037 (-0, +500)
essv13713855	Submitted genomic		NC_000010.10:g.(20 830738_20831238)_( 20850037_20850537) del	GRCh37 (hg19)		NC_000010.10	Chr10	20,831,238 (-500, +0)	20,850,037 (-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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