A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729476



Internal ID10313112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1289489..1291066hg38UCSC Ensembl
Outerchr5:1289604..1291181hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381578
hg191578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6833533, essv6794381
SamplesSSM071, SSM082
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)esv2729476
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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