A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv440e212



Internal ID22783367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2967679..2984666hg38UCSC Ensembl
chr12:3076845..3093832hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3816988
hg1916988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580071, esv3580070
Samples400429YF, 400768MN, 400122PL, 401968HL, 401318AV, 400371GA, 400801HS
Known GenesTEAD4
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)dgv440e212
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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