A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571959



Internal ID18353471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88041426..88042438hg38UCSC Ensembl
Innerchr7:87670741..87671753hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381013
hg191013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9784302, essv9784300, essv9784301, essv9784303
Samples401039PA, 401721CP, 401672FD, 400285FA
Known GenesADAM22
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)esv3571959
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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