A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1221e212



Internal ID19008429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237644082..237651588hg38UCSC Ensembl
chr2:238552725..238560231hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg387507
hg197507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584383, esv3584386, esv3584385, esv3584384
Samples401942MP, 400478WE, 401824MM, 400230TB, 401135CS
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)dgv1221e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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