A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581373



Internal ID18709571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88011653..88018525hg38UCSC Ensembl
Innerchr14:88477997..88484869hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg386873
hg196873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv673e212
Supporting Variantsessv9807109, essv9807108, essv9807107, essv9807106, essv9807105
Samples400789KV, 401036WS, 400374LB, 400721DJ, 401817MC
Known GenesGPR65
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)esv3581373
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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