A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1987e212



Internal ID22784914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148017152..148020157hg38UCSC Ensembl
chr7:147714244..147717249hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg383006
hg193006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572277, esv3572269
Samples401400NP, 401487FW, 401551MB, 400375KA, 401728WK
Known GenesCNTNAP2, MIR548F3, MIR548T
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)dgv1987e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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