A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787897



Internal ID18831495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18906118..19020595hg38UCSC Ensembl
Innerchr22:18893631..19008108hg19UCSC Ensembl
Innerchr22:17273631..17388108hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38114478
hg19114478
hg18114478
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893431
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=41
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787897
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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