A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818022



Internal ID9874458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:157653451..157692391hg38UCSC Ensembl
Outerchr5:157080459..157119399hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3838941
hg1938941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730960
Supporting Variants
SamplesSSM078
Known GenesC5orf52
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)essv6818022
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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