A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664373



Internal ID9583792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72637009..72637152hg38UCSC Ensembl
chr11:72348053..72348196hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6288921, essv5782481, essv5536776, essv5441664, essv6336126, essv6386623, essv6195461, essv6209082, essv6049578, essv6514337, essv5932537, essv6194952, essv6413414, essv5914791, essv6132040, essv5628474, essv6593699, essv6114997, essv6317662, essv6398748, essv6357744, essv6370579, essv5879105, essv5894362, essv6088312, essv5892801, essv5871539, essv6495558, essv5504537, essv5532182, essv6043920, essv6117520
SamplesNA20281, NA19445, NA19904, NA19819, NA19401, NA18516, NA19920, NA18489, NA19108, NA18873, NA18868, NA19390, NA19398, NA19440, NA18916, NA19700, NA19247, NA19380, NA19172, NA18498, NA19102, NA18510, NA19909, NA19711, NA19391, NA20332, NA19394, NA19399, HG01108, HG01125, NA19448, NA18519
Known GenesPDE2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664373
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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