A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745418



Internal ID9809529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184367871..184368470hg38UCSC Ensembl
Outerchr3:184085659..184086258hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726298
Supporting Variants
SamplesSSM055
Known GenesPOLR2H
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)essv6745418
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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