A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6956509



Internal ID9718543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1273157..1273754hg38UCSC Ensembl
Outerchr5:1273272..1273869hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729458, esv2729459
Supporting Variants
SamplesSSM026
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)essv6956509
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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