A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6758561



Internal ID9818186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24049177..24049761hg38UCSC Ensembl
Outerchr16:24060498..24061082hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714101
Supporting Variants
SamplesSSM059
Known GenesPRKCB
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6758561
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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