A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717550



Internal ID9951841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78517356..78518012hg38UCSC Ensembl
Outerchr18:76277356..76278012hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38657
hg19657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674526, essv6756186, essv6898246, essv6835691, essv6784463, essv6665333
SamplesSSM058, SSM031, SSM068, SSM082, SSM004, SSM099
Known Genes
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)esv2717550
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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