A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799396



Internal ID18819274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19020595hg38UCSC Ensembl
Innerchr22:18877787..19008108hg19UCSC Ensembl
Innerchr22:17257787..17388108hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38130322
hg19130322
hg18130322
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893431
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=41
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799396
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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