A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv210e212



Internal ID22783137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44699737..44872355hg38UCSC Ensembl
chr10:45195185..45367803hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38172619
hg19172619
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576494, esv3576505, esv3576549, esv3576516, esv3576527, esv3576538
Samples400230TB, 400606HW, 401214BJ, 400639RP, 401595BL, 400542EG, 400859SC, 402042BJ, 400266BA
Known GenesTMEM72-AS1
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)dgv210e212
Frequency
Sample Size873
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer