A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717664



Internal ID9951955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79610130..79610518hg38UCSC Ensembl
Outerchr18:77370130..77370518hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696490, essv6788660
SamplesSSM069, SSM037
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)esv2717664
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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