A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581114



Internal ID18709312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35023858..35041470hg38UCSC Ensembl
Innerchr14:35493064..35510676hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3817613
hg1917613
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9805171, essv9805168, essv9805162, essv9805170, essv9805169, essv9805163, essv9805165, essv9805167, essv9805160, essv9805164, essv9805161
Samples400908PJ, 401036WS, 401384BP, 401603HH, 401499JR, 400361HC, 401414CR, 400156WT, 401413RG, 400769SL, 401066MM
Known GenesSRP54
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)esv3581114
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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