A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788798



Internal ID18824095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18834973..19029150hg38UCSC Ensembl
Innerchr22:18822486..19016663hg19UCSC Ensembl
Innerchr22:17202486..17396663hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38194178
hg19194178
hg18194178
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893432
Supporting Variants
Samples
Known GenesDGCR10, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=45
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788798
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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