A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3584365

Internal ID18365877
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:226141418..226157836hg38UCSC Ensembl
Innerchr2:227006134..227022552hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9837059, essv9837069, essv9837071, essv9837070, essv9837061, essv9837063, essv9837064, essv9837062, essv9837058, essv9837067, essv9837056, essv9837060, essv9837057, essv9837065, essv9837068
Samples401125LM, 401892MJ, 401359HF, 401500OM, 400068PW, 401176BD, 400788PV, 401016IT, 401029SD, 401112LG, 400829MR, 401251WN, 401623SN, 401235IA, 401852SK
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
Pubmed ID25503493
Accession Number(s)esv3584365
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0

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