A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580441



Internal ID18361953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:102834239..102841122hg38UCSC Ensembl
Innerchr12:103228017..103234900hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg386884
hg196884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv512e212
Supporting Variantsessv9802141, essv9802134, essv9802132, essv9802139, essv9802138, essv9802140, essv9802137, essv9802143, essv9802142, essv9802136, essv9802135
Samples401602PR, 400344DR, 400533BB, 401717LP, 401618HR, 400705KK, 400422PN, 400274TL, 400795CL, 400013TA, 400243CK
Known GenesPAH
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)esv3580441
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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