A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717534



Internal ID9951825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78479555..78479698hg38UCSC Ensembl
Outerchr18:76239555..76239698hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703359, essv6674523
SamplesSSM039, SSM031
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)esv2717534
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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