A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6817993



Internal ID9874484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:122938667..122938922hg38UCSC Ensembl
Outerchr5:122274362..122274617hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730709
Supporting Variants
SamplesSSM078
Known GenesSNX24
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)essv6817993
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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