A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583154



Internal ID18711352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:75422762..75434441hg38UCSC Ensembl
Innerchr18:73134717..73146396hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3811680
hg1911680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9816185
Samples400307HW
Known GenesSMIM21
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3583154
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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