A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9820230



Internal ID18301763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:34353927..34534570hg38UCSC Ensembl
Innerchr21:35726226..35906868hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38180644
hg19180643
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575386
Supporting Variants
Samples400629BM
Known GenesC21orf140, KCNE1, KCNE2, RCAN1, SMIM11
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=324
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9820230
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