A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584385



Internal ID18365897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237644082..237649905hg38UCSC Ensembl
Innerchr2:238552725..238558548hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385824
hg195824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1221e212
Supporting Variantsessv9837116
Samples400230TB
Known GenesLRRFIP1
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)esv3584385
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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