A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv918e212



Internal ID22783845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41034936..41055846hg38UCSC Ensembl
chr17:39191188..39212098hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3820911
hg1920911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582647, esv3582653, esv3582645, esv3582652
Samples400834SS, 400155CW, 401113MJ, 401184MM, 400240HJ, 401853WR, 400999HR, 401958MF
Known GenesKRTAP1-1, KRTAP2-1, KRTAP2-2
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)dgv918e212
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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