A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1819e212



Internal ID20150275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99386035..99398343hg38UCSC Ensembl
chr6:99833911..99846219hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3812309
hg1912309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571316, esv3571317, esv3571318
Samples400782IE, 401275SJ, 400240HJ, 400773GS, 401136LB, 401519SA, 400203NA, 400494ML, 400553PP, 400278PD, 401526WB, 400360SM, 400460DM, 401563TK, 400377WJ, 400422PN, 400053LE, 400241CP, 400356MC, 400320RN, 402042BJ, 400528LR, 400109LJ, 400721DJ, 401847RK, 401956DQ, 401498HH, 401634CH, 400177SJ, 401845MJ, 400624RJ, 401087SF, 401162TM
Known GenesCOQ3
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)dgv1819e212
Frequency
Sample Size873
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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