A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569004



Internal ID18697202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:131988048..131999345hg38UCSC Ensembl
Innerchr3:131706892..131718189hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3811298
hg1911298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9768272, essv9768284, essv9768270, essv9768297, essv9768296, essv9768266, essv9768292, essv9768271, essv9768315, essv9768260, essv9768288, essv9768306, essv9768268, essv9768309, essv9768262, essv9768305, essv9768298, essv9768282, essv9768264, essv9768313, essv9768290, essv9768276, essv9768265, essv9768301, essv9768299, essv9768274, essv9768287, essv9768307, essv9768295, essv9768308, essv9768291, essv9768258, essv9768302, essv9768314, essv9768304, essv9768294, essv9768259, essv9768285, essv9768281, essv9768269, essv9768283, essv9768310, essv9768280, essv9768261, essv9768279, essv9768293, essv9768275, essv9768286, essv9768263, essv9768273, essv9768277, essv9768303
Samples401474CE, 401459HF, 400927BD, 401734PG, 400336BG, 400737GC, 401972BA, 401079HJ, 401403TD, 400655WB, 401698SB, 400629BM, 400855BD, 401368WR, 401022ML, 400658BW, 401253MC, 401936BA, 400669LD, 402062KR, 401842BJ, 400337HG, 400600DP, 401566DD, 402061PI, 400564SN, 400836LK, 401238QR, 401620BA, 400060MC, 400413FJ, 401979TB, 400411TG, 401397WN, 401084TD, 400914ER, 400381CA, 400043HC, 400265LK, 401478RD, 402054BD, 400888MS, 401011PJ, 400598DA, 400274TL, 400770MA, 401552BK, 401661HD, 400719TM, 400177SJ, 401458RT, 401254AE
Known GenesCPNE4
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)esv3569004
Frequency
Sample Size873
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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