A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571891



Internal ID18700089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66793567..66814317hg38UCSC Ensembl
Innerchr7:66258554..66279304hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3820751
hg1920751
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9784002, essv9784003
Samples401235IA, 400818BL
Known GenesGTF2IRD1P1, RABGEF1
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)esv3571891
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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