A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847916



Internal ID10246606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52675826..52676160hg38UCSC Ensembl
Outerchr3:52709842..52710176hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725278
Supporting Variants
SamplesSSM086
Known GenesPBRM1
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)essv6847916
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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