A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580513



Internal ID18362025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123617400..123625575hg38UCSC Ensembl
Innerchr12:124101947..124110122hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg388176
hg198176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524e212
Supporting Variantsessv9802593, essv9802584, essv9802573, essv9802583, essv9802588, essv9802579, essv9802585, essv9802577, essv9802580, essv9802590, essv9802586, essv9802568, essv9802582, essv9802575, essv9802570, essv9802569, essv9802591, essv9802572, essv9802571, essv9802587, essv9802581, essv9802576, essv9802592, essv9802574
Samples401221LD, 401640WJ, 401518VK, 400643LD, 401402EN, 400558BL, 401308LD, 400893ZE, 401780BB, 401303FM, 400729HC, 401085LA, 401714BM, 401210PB, 401444LD, 400603CJ, 401847RK, 401735LE, 400833BB, 400261RN, 400209BS, 401993HM, 400255CD, 401497PR
Known GenesDDX55, EIF2B1
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)esv3580513
Frequency
Sample Size873
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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