A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570462



Internal ID18351974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140839141..140872662hg38UCSC Ensembl
Innerchr5:140218726..140252247hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3833522
hg1933522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1653e212
Supporting Variantsessv9776327, essv9776326, essv9776325, essv9776328
Samples402038MR, 400006DK, 401153HS, 401207DA
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)esv3570462
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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