A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722503



Internal ID10306139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50616953..50618218hg38UCSC Ensembl
Outerchr20:49233490..49234755hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381266
hg191266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780332
SamplesSSM008
Known GenesFAM65C
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)esv2722503
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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