A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720013



Internal ID9954309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46085543..46085832hg38UCSC Ensembl
Outerchr2:46312682..46312971hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864326, essv6972893, essv6962031, essv6883471, essv6669461, essv6853687, essv6816933, essv6859529, essv6955271, essv6710882
SamplesSSM027, SSM087, SSM042, SSM088, SSM029, SSM026, SSM089, SSM031, SSM078, SSM095
Known GenesPRKCE
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)esv2720013
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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