A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743033



Internal ID9804965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173068981..173071814hg38UCSC Ensembl
Outerchr5:172495984..172498817hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382834
hg192834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731109
Supporting Variants
SamplesSSM053
Known GenesCREBRF
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)essv6743033
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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