A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789087



Internal ID18818548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18913491..19020595hg38UCSC Ensembl
Innerchr22:18901004..19008108hg19UCSC Ensembl
Innerchr22:17281004..17388108hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38107105
hg19107105
hg18107105
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893431
Supporting Variants
Samples
Known GenesDGCR5, DGCR9, PRODH
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=40
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789087
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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