A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663962



Internal ID9583381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1190942..1191621hg38UCSC Ensembl
chr16:1240942..1241621hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5492832, essv6016363, essv6487998, essv6369753, essv6352985, essv6491021, essv5517721, essv6081238, essv5451627, essv5956341, essv6253803, essv5445621, essv5622862, essv5560571
SamplesNA19700, NA19704, NA19920, NA19448, HG01492, HG00311, NA19471, NA18910, NA19461, HG01101, HG01107, NA19311, HG01108, NA18989
Known GenesCACNA1H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663962
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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