A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740936



Internal ID10295052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81866366..81866651hg38UCSC Ensembl
Outerchr16:81899971..81900256hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv375e201
Supporting Variantsessv6691188
SamplesSSM005
Known GenesPLCG2
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)esv2740936
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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