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dbVar

Database of genomic structural variation

esv2676788

Organism: Homo sapiens

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

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:20,579

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: 244 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):196,987,254-197,007,832

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2676788	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	196,987,254	196,987,291	197,007,782	197,007,832
esv2676788	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	196,956,384	196,956,421	196,976,912	196,976,962

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6182044	deletion	SAMN00007813	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,240
essv6513178	deletion	SAMN00001170	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,684

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv6182044	Remapped	Perfect	NC_000001.11:g.(19 6987254_196987291) _(197007782_197007 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,987,254	196,987,291	197,007,782	197,007,832
essv6513178	Remapped	Perfect	NC_000001.11:g.(19 6987254_196987291) _(197007782_197007 832)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	196,987,254	196,987,291	197,007,782	197,007,832
essv6182044	Submitted genomic		NC_000001.10:g.(19 6956384_196956421) _(196976912_196976 962)del	GRCh37 (hg19)		NC_000001.10	Chr1	196,956,384	196,956,421	196,976,912	196,976,962
essv6513178	Submitted genomic		NC_000001.10:g.(19 6956384_196956421) _(196976912_196976 962)del	GRCh37 (hg19)		NC_000001.10	Chr1	196,956,384	196,956,421	196,976,912	196,976,962

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6513178	9	SAMN00001170	Oligo aCGH	Probe signal intensity	Pass
essv6182044	9	SAMN00007813	Oligo aCGH	Probe signal intensity	Pass
essv6513178	7	SAMN00001170	SNP array	Probe signal intensity	Pass
essv6182044	7	SAMN00007813	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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