A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583663



Internal ID18711861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:19565344..19574638hg38UCSC Ensembl
Innerchr2:19765105..19774399hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg389295
hg199295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9816066, essv9816022, essv9816089, essv9816044, essv9816000, essv9816055, essv9815978, essv9816111, essv9816077, essv9816100, essv9815989, essv9816011, essv9815955, essv9816033, essv9815966
Samples400075MR, 401819BS, 400889CM, 401460LW, 400333CC, 401764JJ, 401726LW, 401423BA, 401630MK, 401504RJ, 400274TL, 401365DJ, 400785AK, 400013TA, 401517PR
Known Genes
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)esv3583663
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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