A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577882



Internal ID18359394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58571980..58585927hg38UCSC Ensembl
Innerchr1:59037652..59051599hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3813948
hg1913948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv40e212
Supporting Variantsessv9767367, essv9767356
Samples400888MS, 401571SD
Known GenesTACSTD2
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)esv3577882
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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