A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664269



Internal ID9583688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83443779..83444167hg38UCSC Ensembl
chr16:83477384..83477772hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5866676, essv6458944, essv5419659, essv6508693, essv5595026, essv6549388, essv5514490, essv6375084, essv6443147, essv5903283, essv6022421, essv5912958, essv5680854, essv6250517, essv6578392, essv5455719, essv5585438, essv6531824, essv6141799
SamplesHG00245, HG01365, HG00375, HG01521, HG00339, NA12763, HG01375, NA19660, HG00159, HG00124, HG00282, HG00232, NA20582, NA19318, HG00236, NA20509, NA19717, HG00275, HG00183
Known GenesCDH13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664269
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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