A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584365



Internal ID18365877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:226141418..226157836hg38UCSC Ensembl
Innerchr2:227006134..227022552hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3816419
hg1916419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837061, essv9837062, essv9837064, essv9837058, essv9837068, essv9837070, essv9837065, essv9837069, essv9837067, essv9837059, essv9837060, essv9837071, essv9837063, essv9837056, essv9837057
Samples401852SK, 401235IA, 400068PW, 401500OM, 401029SD, 401251WN, 401623SN, 401125LM, 400829MR, 401892MJ, 401176BD, 401112LG, 400788PV, 401359HF, 401016IT
Known GenesLOC646736
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)esv3584365
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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