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dbVar

Database of genomic structural variation

esv2657395

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:6
Validation:Yes
Clinical Assertions: No
Region Size:49,362

Publication(s):1000 Genomes Project Consortium et al. 2012

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: 247 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):74,032,091-74,081,452

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2657395	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	74,032,091	74,081,452
esv2657395	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	74,741,807	74,791,168

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5506020	deletion	SAMN00001648	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,343
essv5891473	deletion	SAMN00001310	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	981
essv5900586	deletion	SAMN00801105	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,002
essv6071663	deletion	SAMN00000427	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,692
essv6235299	deletion	SAMN00001035	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,325
essv6336217	deletion	SAMN00001251	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	740

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5506020	Remapped	Perfect	NC_000006.12:g.740 32091_74081452delA	GRCh38.p12	First Pass	NC_000006.12	Chr6	74,032,091	74,081,452
essv5891473	Remapped	Perfect	NC_000006.12:g.740 32091_74081452delA	GRCh38.p12	First Pass	NC_000006.12	Chr6	74,032,091	74,081,452
essv5900586	Remapped	Perfect	NC_000006.12:g.740 32091_74081452delA	GRCh38.p12	First Pass	NC_000006.12	Chr6	74,032,091	74,081,452
essv6071663	Remapped	Perfect	NC_000006.12:g.740 32091_74081452delA	GRCh38.p12	First Pass	NC_000006.12	Chr6	74,032,091	74,081,452
essv6235299	Remapped	Perfect	NC_000006.12:g.740 32091_74081452delA	GRCh38.p12	First Pass	NC_000006.12	Chr6	74,032,091	74,081,452
essv6336217	Remapped	Perfect	NC_000006.12:g.740 32091_74081452delA	GRCh38.p12	First Pass	NC_000006.12	Chr6	74,032,091	74,081,452
essv5506020	Submitted genomic		NC_000006.11:g.747 41807_74791168delA	GRCh37 (hg19)		NC_000006.11	Chr6	74,741,807	74,791,168
essv5891473	Submitted genomic		NC_000006.11:g.747 41807_74791168delA	GRCh37 (hg19)		NC_000006.11	Chr6	74,741,807	74,791,168
essv5900586	Submitted genomic		NC_000006.11:g.747 41807_74791168delA	GRCh37 (hg19)		NC_000006.11	Chr6	74,741,807	74,791,168
essv6071663	Submitted genomic		NC_000006.11:g.747 41807_74791168delA	GRCh37 (hg19)		NC_000006.11	Chr6	74,741,807	74,791,168
essv6235299	Submitted genomic		NC_000006.11:g.747 41807_74791168delA	GRCh37 (hg19)		NC_000006.11	Chr6	74,741,807	74,791,168
essv6336217	Submitted genomic		NC_000006.11:g.747 41807_74791168delA	GRCh37 (hg19)		NC_000006.11	Chr6	74,741,807	74,791,168

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6071663	7	SAMN00000427	SNP array	Probe signal intensity	Pass
essv6235299	7	SAMN00001035	SNP array	Probe signal intensity	Pass
essv6336217	7	SAMN00001251	SNP array	Probe signal intensity	Pass
essv5891473	7	SAMN00001310	SNP array	Probe signal intensity	Pass
essv5506020	7	SAMN00001648	SNP array	Probe signal intensity	Pass
essv5900586	7	SAMN00801105	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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