A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722791



Internal ID10306427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62285714..62286119hg38UCSC Ensembl
Outerchr20:60860770..60861175hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773038
SamplesSSM065
Known GenesOSBPL2
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)esv2722791
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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