A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673523



Internal ID9939628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116797649..116802972hg38UCSC Ensembl
chr11:116668365..116673688hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385324
hg195324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5578103, essv5851075, essv5514928, essv5477307, essv6169983, essv6113691, essv5876656, essv5770290, essv5894923, essv5566191, essv6249934, essv5454730, essv6361290, essv5745431, essv6048201, essv5719586, essv6364061, essv6434818, essv6064598
SamplesNA18504, HG00737, NA18489, NA19448, NA18868, NA19239, NA19209, NA18908, NA19210, NA19462, NA19449, NA18853, NA19834, NA19240, NA19248, NA18873, NA19213, NA19463, HG00553
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673523
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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