A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672656



Internal ID2905743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71416255..71421549hg38UCSC Ensembl
chr10:73176012..73181306hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg385295
hg195295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6517449
SamplesNA19716
Known GenesCDH23
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672656
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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