A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1209e212



Internal ID22784136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212500527..212508941hg38UCSC Ensembl
chr2:213365251..213373665hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg388415
hg198415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584328, esv3584329, esv3584331, esv3584330
Samples401162TM, 400683EC, 401536BD, 400453LN, 401132CH, 401975VD, 401792KR, 400198MD, 401594MP, 400978JG, 400721DJ, 401884WJ, 400274TL, 402009WP, 400271SR, 401681MS, 401882CR, 401480PG
Known GenesERBB4
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)dgv1209e212
Frequency
Sample Size873
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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