A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583654



Internal ID18365166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:15937643..15955549hg38UCSC Ensembl
Innerchr2:16077765..16095671hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3817907
hg1917907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1102e212
Supporting Variantsessv9815510, essv9815388, essv9815567, essv9815700, essv9815645, essv9815722, essv9815656, essv9815377, essv9815556, essv9815455, essv9815611, essv9815488, essv9815689, essv9815667, essv9815422, essv9815477, essv9815399, essv9815499, essv9815466, essv9815711, essv9815633, essv9815600, essv9815578, essv9815589, essv9815622, essv9815433, essv9815521, essv9815366, essv9815545, essv9815410, essv9815534, essv9815444, essv9815678
Samples400287BP, 400927BD, 400599CP, 400789KV, 401460LW, 401302LJ, 400641WJ, 401602PR, 400953MR, 400360SM, 401860TJ, 400503HD, 400203NA, 401155ML, 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)esv3583654
Frequency
Sample Size873
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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