A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9793755



Internal ID18281580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9244686..9344634hg38UCSC Ensembl
Innerchr1:9304745..9404693hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3899949
hg1999949
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3574563
Supporting Variants
Samples400083TG
Known GenesH6PD, SPSB1
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=84
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9793755
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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