A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6245079



Internal ID9222482
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 Flag1
Merged StatusS
Merged Variantsesv2662823
Supporting Variants
SamplesNA20828
Known GenesPRKCB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6245079
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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