A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575254



Internal ID18703452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64985970..64993952hg38UCSC Ensembl
Innerchr2:65213104..65221086hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg387983
hg197983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1128e212
Supporting Variantsessv9827266, essv9827244, essv9827222, essv9827255, essv9827233, essv9827211, essv9827277
Samples401196CR, 401239PR, 401251WN, 401940SJ, 400271SR, 400833BB, 401882CR
Known GenesSLC1A4
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)esv3575254
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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