A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854773



Internal ID9906093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1273200..1273310hg38UCSC Ensembl
Outerchr5:1273315..1273425hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729460, esv2729459, esv2729458
Supporting Variants
SamplesSSM087
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)essv6854773
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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