A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572099



Internal ID18700297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:117830639..117840080hg38UCSC Ensembl
Innerchr7:117470693..117480134hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg389442
hg199442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1954e212
Supporting Variantsessv9784774, essv9784776, essv9784773, essv9784775
Samples400911GA, 401870FB, 400295PS, 400661AD
Known GenesCTTNBP2
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)esv3572099
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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