A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575972



Internal ID18357484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248525286..248670455hg38UCSC Ensembl
Innerchr1:248688587..248833756hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38145170
hg19145170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv165e212
Supporting Variantsessv9810932
Samples400970VE
Known GenesOR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35
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)esv3575972
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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