A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1109e212



Internal ID20149565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32403550..33109632hg38UCSC Ensembl
chr2:32628618..33334699hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38706083
hg19706082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575214, esv3575215, esv3575213, esv3575217
Samples401210PB, 401496SL, 402009WP, 400668TD
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
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)dgv1109e212
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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