A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667653



Internal ID4711987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71904840..71907005hg19UCSC Ensembl
Outerchr2:71904683..71907158hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5496016
SamplesNA12761
Known GenesDYSF
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667653
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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