A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571966



Internal ID18353478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88926160..88927575hg38UCSC Ensembl
Innerchr7:88555474..88556889hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg381416
hg191416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9784321, essv9784318, essv9784320, essv9784323, essv9784319
Samples401354KM, 400730SH, 400543CK, 402042BJ, 400542EG
Known GenesZNF804B
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)esv3571966
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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