A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729467



Internal ID3279963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1275780..1276046hg38UCSC Ensembl
Outerchr5:1275895..1276161hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817825, essv6963224, essv6748502, essv6670653, essv6963225
SamplesSSM027, SSM078, SSM031, SSM056
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)esv2729467
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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