A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1952e212



Internal ID20150408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114336580..114340180hg38UCSC Ensembl
chr7:113976635..113980235hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572084, esv3572083
Samples401628GC, 401879HJ
Known GenesFOXP2
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)dgv1952e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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