A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729462



Internal ID9963777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1273283..1273716hg38UCSC Ensembl
Outerchr5:1273398..1273831hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv917e201
Supporting Variantsessv6878391, essv6889915, essv6922786, essv6745701
SamplesSSM097, SSM093, SSM018, SSM055
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)esv2729462
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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