A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv421e212



Internal ID20148877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125205392..125218418hg38UCSC Ensembl
chr11:125075288..125088314hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3813027
hg1913027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579947, esv3579944, esv3579948, esv3579945
Samples401495NR, 401607LL, 400792RE, 401726LW, 401526WB, 401630MK, 401376RD, 400353ML, 400829MR, 400040CN, 400329HJ, 401036WS, 401700BN, 400073HT, 400338SR, 400801HS, 401054VM
Known GenesPKNOX2
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)dgv421e212
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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