A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722042



Internal ID3272538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:959086..959138hg38UCSC Ensembl
Outerchr20:939729..939781hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852567
SamplesSSM086
Known GenesRSPO4
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)esv2722042
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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