A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9835120



Internal ID18650691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130059753..130116902hg38UCSC Ensembl
Innerchr2:130817326..130874475hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3857150
hg1957150
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584059
Supporting Variants
Samples400704LC
Known GenesPOTEF
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
CommentsNumber of probes=20
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9835120
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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