A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12e212



Internal ID20148468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9243684..9344908hg38UCSC Ensembl
chr1:9303743..9404967hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38101225
hg19101225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571230, esv3573452, esv3570119, esv3574563, esv3575249, esv3572341
Samples401235IA, 401380OL, 400083TG, 400059SV, 401258PC, 400650RM, 401443JK
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv12e212
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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