A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716860



Internal ID10300496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:23478616..23478753hg38UCSC Ensembl
Outerchr18:21058580..21058717hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692255
SamplesSSM036
Known GenesRIOK3
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)esv2716860
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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