A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573384



Internal ID18354896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:124877849..124881830hg38UCSC Ensembl
Innerchr9:127640128..127644109hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg383982
hg193982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9791649, essv9791646, essv9791654, essv9791651, essv9791652, essv9791653, essv9791648, essv9791650, essv9791655, essv9791647
Samples400674CA, 401155ML, 401133JG, 400717BD, 401864CV, 401039PA, 400422PN, 400818BL, 400601WC, 401735LE
Known GenesGOLGA1
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)esv3573384
Frequency
Sample Size873
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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