A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6711580



Internal ID9777510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1273167..1273693hg38UCSC Ensembl
Outerchr5:1273282..1273808hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729458, esv2729459
Supporting Variants
SamplesSSM042
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)essv6711580
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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