A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656668



Internal ID4701002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42305205..42305754hg19UCSC Ensembl
Outerchr8:42305168..42305804hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv6254577
SamplesNA19716
Known GenesSLC20A2
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656668
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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