A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575470



Internal ID18703668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:26495519..26502925hg38UCSC Ensembl
Innerchr22:26891485..26898891hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg387407
hg197407
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1310e212
Supporting Variantsessv9821959, essv9821946, essv9821951, essv9821950, essv9821948, essv9821958, essv9821961, essv9821955, essv9821956, essv9821947, essv9821962, essv9821963, essv9821957, essv9821945, essv9821949, essv9821960, essv9821952, essv9821953
Samples400075MR, 400926LJ, 400534ME, 400294HD, 401427CB, 400834SS, 400493KH, 400606HW, 400870KC, 400082SD, 401075MN, 400603CJ, 400278PD, 400598DA, 400818BL, 400732MA, 401358VP, 400238BB
Known GenesTFIP11
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)esv3575470
Frequency
Sample Size873
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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