A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568394



Internal ID18696592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39564687..39584374hg38UCSC Ensembl
Innerchr22:39960692..39980379hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3819688
hg1919688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1315e212
Supporting Variantsessv9822131, essv9822138, essv9822146, essv9822133, essv9822149, essv9822144, essv9822134, essv9822140, essv9822145, essv9822135, essv9822129, essv9822147, essv9822141, essv9822148, essv9822142, essv9822137, essv9822136, essv9822130, essv9822139
Samples400574MA, 401096SL, 400797ST, 401500OM, 400564SN, 400836LK, 400333CC, 401029SD, 401353BC, 400218WK, 400007RG, 401278DM, 400967PK, 401143LK, 401100SJ, 401781SL, 400013TA, 400209BS, 401395OP
Known GenesCACNA1I
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)esv3568394
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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