A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1681e212



Internal ID22784608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178856572..178869073hg38UCSC Ensembl
chr5:178283573..178296074hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3812502
hg1912502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570590, esv3570591
Samples400066MA, 401863BD, 400312CR, 401358VP
Known GenesZNF354B
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)dgv1681e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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