A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665533



Internal ID9931638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73709104..73715882hg38UCSC Ensembl
chr11:73420149..73426927hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg386779
hg196779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5468134, essv6505472, essv6179000
SamplesNA18637, HG00580, NA19083
Known GenesRAB6A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665533
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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