A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6713420



Internal ID9779166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23981728..23981920hg38UCSC Ensembl
Outerchr16:23993049..23993241hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714100, esv2714099
Supporting Variants
SamplesSSM042
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)essv6713420
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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