A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790900



Internal ID18828070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19029150hg38UCSC Ensembl
Innerchr22:18877787..19016663hg19UCSC Ensembl
Innerchr22:17257787..17396663hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38138877
hg19138877
hg18138877
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893431
Supporting Variants
Samples
Known GenesDGCR10, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=42
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790900
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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