A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9815481



Internal ID18645098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:13915092..13916164hg38UCSC Ensembl
Innerchr18:13915091..13916163hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381073
hg191073
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582981
Supporting Variants
Samples400543CK
Known GenesMC2R
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
CommentsNumber of probes=14
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9815481
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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