A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv964e212



Internal ID22783891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67431661..67449140hg38UCSC Ensembl
chr17:65427777..65445256hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3817480
hg1917480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582883, esv3582884, esv3582885, esv3582880
Samples401191MI, 400594VJ, 400626FC, 401013GJ, 400994HJ, 401326LI, 401346FJ, 401619BT, 400249BC, 401307VR, 400695PH, 400295PS, 401287CF, 400410CD, 401735LE, 400782IE
Known GenesPITPNC1
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)dgv964e212
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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