A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581612



Internal ID18363124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:31069401..31072985hg38UCSC Ensembl
Innerchr15:31361604..31365188hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg383585
hg193585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9808305, essv9808306
Samples400999HR, 400620MT
Known GenesTRPM1
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)esv3581612
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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