A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584145



Internal ID18712343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165288832..165297370hg38UCSC Ensembl
Innerchr2:166145342..166153880hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg388539
hg198539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1179e212
Supporting Variantsessv9835645, essv9835647, essv9835642, essv9835643, essv9835651, essv9835657, essv9835649, essv9835654, essv9835640, essv9835637, essv9835653, essv9835646, essv9835639, essv9835648, essv9835641, essv9835652, essv9835638, essv9835650, essv9835656
Samples400364SS, 401146US, 40031BA, 400906BR, 401093VL, 401308LD, 401924ST, 400482MD, 401006ES, 400929MM, 400093BL, 400758KP, 401864CV, 401513KC, 401016IT, 400246MG, 401288LD, 401287CF, 400130HA
Known GenesSCN2A
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)esv3584145
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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