A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584014



Internal ID18712212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:112056428..112059346hg38UCSC Ensembl
Innerchr2:112814005..112816923hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382919
hg192919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9835002, essv9835000, essv9835001, essv9835003, essv9834998, essv9835004
Samples400287BP, 401949MN, 401892MJ, 400378HL, 401797LS, 400150SS
Known GenesTMEM87B
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)esv3584014
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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