A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568428



Internal ID18696626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43718981..43723519hg38UCSC Ensembl
Innerchr22:44114861..44119399hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg384539
hg194539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1324e212
Supporting Variantsessv9822303, essv9822286, essv9822309, essv9822310, essv9822280, essv9822331, essv9822285, essv9822298, essv9822295, essv9822290, essv9822325, essv9822313, essv9822305, essv9822292, essv9822291, essv9822302, essv9822281, essv9822317, essv9822282, essv9822308, essv9822333, essv9822324, essv9822332, essv9822330, essv9822326, essv9822322, essv9822316, essv9822338, essv9822284, essv9822329, essv9822327, essv9822337, essv9822318, essv9822287, essv9822319, essv9822314, essv9822335, essv9822297, essv9822294, essv9822307, essv9822306, essv9822283, essv9822320, essv9822288, essv9822321, essv9822315, essv9822293, essv9822301, essv9822304, essv9822299, essv9822296, essv9822328, essv9822336
Samples401636WR, 400649PS, 400599CP, 401420PJ, 400908PJ, 401489CB, 400917CG, 400313DF, 400468OB, 400191MP, 401500OM, 401019MP, 400674CA, 402028BD, 401842BJ, 401263HS, 401113MJ, 400203NA, 401965TG, 400206SC, 400060MC, 400442FE, 401376RD, 400763BT, 401085LA, 400515ZG, 401714BM, 400738WM, 401499JR, 400543CK, 401968HL, 4000657TM, 401606CG, 400171BJ, 401311GL, 400854SG, 400258BC, 400571WV, 400999HR, 401922MW, 401410BJ, 400654YW, 400728PB, 401693RC, 401010HT, 401250WD, 400084DM, 401628GC, 400213DB, 401612HB, 401510DG, 401497PR, 401362ME
Known GenesEFCAB6
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)esv3568428
Frequency
Sample Size873
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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