A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578273



Internal ID18706471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:173877395..173886070hg38UCSC Ensembl
Innerchr1:173846533..173855208hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg388676
hg198676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv118e212
Supporting Variantsessv9796200, essv9796222, essv9796233, essv9796211, essv9796255, essv9796244
Samples400619MP, 402016HZ, 400929MM, 400768MN, 401825TH, 4000046CJ
Known GenesZBTB37
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)esv3578273
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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