A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743305



Internal ID10297421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34889335..34889479hg38UCSC Ensembl
Outerchr20:33477138..33477282hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967267
SamplesSSM027
Known GenesACSS2
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)esv2743305
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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