A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569340



Internal ID18697538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:30832560..30837668hg38UCSC Ensembl
Innerchr4:30834182..30839290hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg385109
hg195109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9770355, essv9770354, essv9770349, essv9770363, essv9770360, essv9770358, essv9770353, essv9770359, essv9770362, essv9770351, essv9770357, essv9770352, essv9770350, essv9770364, essv9770361
Samples400701MM, 401292ER, 401899MB, 401845MJ, 400425SL, 400347VJ, 400127MD, 401655DC, 401119DK, 401210PB, 4000657TM, 400135DR, 401361GG, 400501SJ, 400328LM
Known GenesPCDH7
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)esv3569340
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer