A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576429



Internal ID18357941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128286051..128306120hg38UCSC Ensembl
Innerchr7:127926104..127946173hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3820070
hg1920070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9784951, essv9784952
Samples401582GG, 401453OL
Known GenesMGC27345
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)esv3576429
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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