A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584383



Internal ID18365895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237644082..237651453hg38UCSC Ensembl
Innerchr2:238552725..238560096hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg387372
hg197372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1221e212
Supporting Variantsessv9837117, essv9837118
Samples400478WE, 401824MM
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)esv3584383
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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