A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1102e212



Internal ID20149558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:15937643..15955551hg38UCSC Ensembl
chr2:16077765..16095673hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3817909
hg1917909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583654, esv3583655
Samples400287BP, 400927BD, 400599CP, 400789KV, 401460LW, 401302LJ, 400641WJ, 401602PR, 400953MR, 400360SM, 401860TJ, 400503HD, 400203NA, 401155ML, 401831TW, 400353ML, 400836LK, 401620BA, 400236DB, 401477ST, 400838AM, 400285FA, 400960TN, 400639RP, 401889FR, 400362TV, 400712GC, 401315HK, 401847RK, 401567BD, 4000046CJ, 401681MS, 400923OA, 401207DA
Known GenesMYCN, MYCNOS
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)dgv1102e212
Frequency
Sample Size873
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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