A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575718



Internal ID18357230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68501375..68676245hg38UCSC Ensembl
Innerchr4:69367093..69541963hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38174871
hg19174871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1491e212
Supporting Variantsessv9771252, essv9771257, essv9771254, essv9771258, essv9771260, essv9771255, essv9771259, essv9771253
Samples400618GC, 401117NA, 401538NS, 400109LJ, 401013GJ, 401952UH, 400177CG, 400996MC
Known GenesUGT2B15, UGT2B17
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)esv3575718
Frequency
Sample Size873
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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