A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790494



Internal ID19159556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25273175..25452844hg38UCSC Ensembl
Innerchr22:25669142..25848811hg19UCSC Ensembl
Innerchr22:23999142..24178811hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38179670
hg19179670
hg18179670
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893466
Supporting Variants
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=36
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790494
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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