A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578180



Internal ID18706378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152555313..152619708hg38UCSC Ensembl
Innerchr1:152527789..152592184hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3864396
hg1964396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv100e212
Supporting Variantsessv9788366, essv9788377
Samples400478WE, 401952UH
Known GenesLCE3B, LCE3C, LCE3D, LCE3E
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)esv3578180
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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