A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575454



Internal ID18703652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25260271..25526367hg38UCSC Ensembl
Innerchr22:25656238..25922334hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38266097
hg19266097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1304e212
Supporting Variantsessv9821771, essv9821761, essv9821748, essv9821772, essv9821751, essv9821757, essv9821770, essv9821752, essv9821741, essv9821764, essv9821747, essv9821756, essv9821773, essv9821769, essv9821758
Samples401459HF, 401033DJ, 400984LD, 401956DQ, 401918CA, 400148MS, 400526DR, 402012RR, 401994BD, 401732HW, 401050GS, 400768MN, 401950MD, 400639RP, 400520FM
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
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)esv3575454
Frequency
Sample Size873
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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