A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742530



Internal ID9976814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1273560..1273773hg38UCSC Ensembl
Outerchr5:1273675..1273888hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6881195
SamplesSSM094
Known GenesTERT
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)esv2742530
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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