A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6081238



Internal ID9058641
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 StatusS
Merged Variantsesv2663962
Supporting Variants
SamplesNA19920
Known GenesCACNA1H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6081238
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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