A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573106



Internal ID18701304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:7472874..7479794hg38UCSC Ensembl
Innerchr9:7472874..7479794hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg386921
hg196921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2129e212
Supporting Variantsessv9790250, essv9790239, essv9790260, essv9790261, essv9790259, essv9790235, essv9790251, essv9790263, essv9790246, essv9790237, essv9790241, essv9790248, essv9790240, essv9790238, essv9790254, essv9790247, essv9790252, essv9790253, essv9790231, essv9790232, essv9790243, essv9790255, essv9790264, essv9790262, essv9790258, essv9790249, essv9790242, essv9790233, essv9790244, essv9790236, essv9790257
Samples401852SK, 401146US, 400132HN, 401592NR, 400683EC, 401927SK, 400553PP, 401857VG, 400523GB, 401258PC, 401792KR, 401869BG, 401773AM, 400218WK, 401013GJ, 400123WN, 401067BD, 401182OC, 400177CG, 400454RE, 400458LS, 400103BN, 401861GG, 400996MC, 401056TJ, 401372RR, 400785AK, 400833BB, 401993HM, 401066MM, 400942HR
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)esv3573106
Frequency
Sample Size873
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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