A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10587660



Internal ID589476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95291730..95301309hg38UCSC Ensembl
Innerchr2:95291739..95301301hg38UCSC Ensembl
Outerchr2:95291722..95301318hg38UCSC Ensembl
chr2:95957478..95967057hg19UCSC Ensembl
Innerchr2:95957487..95967049hg19UCSC Ensembl
Outerchr2:95957470..95967066hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg389580
hg199580
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591667
Supporting Variants
SamplesHG02130
Known GenesKCNIP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10587660
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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