A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582440



Internal ID18363952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89734780..89738373hg38UCSC Ensembl
Innerchr16:89801188..89804781hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg383594
hg193594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv873e212
Supporting Variantsessv9812160, essv9812146, essv9812147, essv9812161, essv9812145, essv9812148, essv9812156, essv9812152, essv9812162, essv9812143, essv9812150, essv9812149, essv9812159, essv9812154, essv9812157, essv9812158, essv9812163, essv9812153, essv9812151
Samples401474CE, 400880TM, 401852SK, 400739SS, 400626FC, 401117NA, 400325BE, 400425SL, 401165SB, 401997HB, 400270BD, 400507VD, 401812HG, 400671PP, 401858TP, 401912HD, 400150SS, 400532MH, 400645KM
Known GenesFANCA, ZNF276
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)esv3582440
Frequency
Sample Size873
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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