A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722456



Internal ID9956755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:45906691..45907225hg38UCSC Ensembl
Outerchr20:44535330..44535864hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888695
SamplesSSM096
Known GenesPLTP
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)esv2722456
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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