A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729466



Internal ID9963781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1275697..1275884hg38UCSC Ensembl
Outerchr5:1275812..1275999hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817825, essv6963224, essv6893229, essv6822182, essv6693868, essv6670653
SamplesSSM027, SSM078, SSM031, SSM037, SSM079, SSM098
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)esv2729466
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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