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dbVar

Database of genomic structural variation

esv2668210

Organism: Homo sapiens

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

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:8,935

Description:High quality site
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: 201 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):98,054,986-98,063,920

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2668210	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	98,054,986	98,063,920
esv2668210	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	99,067,214	99,076,148

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5940167	deletion	SAMN00000549	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,136
essv6313136	deletion	SAMN00001155	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,570
essv6441150	deletion	SAMN00001146	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,412

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5940167	Remapped	Perfect	NC_000008.11:g.980 54986_98063920delT	GRCh38.p12	First Pass	NC_000008.11	Chr8	98,054,986	98,063,920
essv6313136	Remapped	Perfect	NC_000008.11:g.980 54986_98063920delT	GRCh38.p12	First Pass	NC_000008.11	Chr8	98,054,986	98,063,920
essv6441150	Remapped	Perfect	NC_000008.11:g.980 54986_98063920delT	GRCh38.p12	First Pass	NC_000008.11	Chr8	98,054,986	98,063,920
essv5940167	Submitted genomic		NC_000008.10:g.990 67214_99076148delT	GRCh37 (hg19)		NC_000008.10	Chr8	99,067,214	99,076,148
essv6313136	Submitted genomic		NC_000008.10:g.990 67214_99076148delT	GRCh37 (hg19)		NC_000008.10	Chr8	99,067,214	99,076,148
essv6441150	Submitted genomic		NC_000008.10:g.990 67214_99076148delT	GRCh37 (hg19)		NC_000008.10	Chr8	99,067,214	99,076,148

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5940167	7	SAMN00000549	SNP array	Probe signal intensity	Pass
essv6441150	7	SAMN00001146	SNP array	Probe signal intensity	Pass
essv6313136	7	SAMN00001155	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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