A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1986e212



Internal ID19009194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147745069..147747994hg38UCSC Ensembl
chr7:147442161..147445086hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382926
hg192926
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572265, esv3572263
Samples400526DR, 400923OA
Known GenesCNTNAP2
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)dgv1986e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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