A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9793207



Internal ID18304271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44916005..45054697hg38UCSC Ensembl
Innerchr10:45411453..45550145hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38138693
hg19138693
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576560
Supporting Variants
Samples400717BD
Known GenesC10orf10, C10orf25, RASSF4, TMEM72, TMEM72-AS1, ZNF22
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
CommentsNumber of probes=152
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9793207
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer