A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717289



Internal ID9951578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:69412388..69428685hg38UCSC Ensembl
Outerchr18:67079624..67095921hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3816298
hg1916298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835666
SamplesSSM082
Known GenesDOK6
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)esv2717289
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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