A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575418



Internal ID18356930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18161776..19963846hg38UCSC Ensembl
Innerchr22:18644543..19951369hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381802071
hg191306827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9820857
Samples400649PS
Known GenesC22orf29, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR10, DGCR11, DGCR14, DGCR2, DGCR5, DGCR6, DGCR9, GGT3P, GNB1L, GP1BB, GSC2, HIRA, LINC00895, LOC100652736, MIR4761, MRPL40, PRODH, SEPT5, SEPT5-GP1BB, SLC25A1, TBX1, TSSK2, TXNRD2, UFD1L, USP18
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)esv3575418
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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