A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662823



Internal ID9582242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23922808..23930929hg38UCSC Ensembl
chr16:23934129..23942250hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg388122
hg198122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6472622, essv6245079, essv6040494, essv6180118, essv5854565, essv6501026
SamplesHG01441, NA20798, HG00180, NA20828, NA20537, NA20806
Known GenesPRKCB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662823
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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