A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv966e212



Internal ID22783893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80630279..80641723hg38UCSC Ensembl
chr17:78604079..78615523hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3811445
hg1911445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573864, esv3573875, esv3573842
Samples400534ME, 401146US, 400970VE, 400083TG, 401603HH, 401906DT, 400631SJ, 400385LJ, 402029KJ, 400218WK, 402033WD, 400686BM, 402054BD, 401940SJ, 400329HJ, 400601WC, 401847RK, 401277RA, 401413RG, 400328LM
Known GenesRPTOR
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)dgv966e212
Frequency
Sample Size873
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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