A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571928



Internal ID18353440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75903209..75918552hg38UCSC Ensembl
Innerchr7:75532527..75547870hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3815344
hg1915344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9784216, essv9784215
Samples400441GS, 400378HL
Known GenesMIR4651, POR
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)esv3571928
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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