A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787840



Internal ID18829364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960091..22218817hg38UCSC Ensembl
Innerchr22:22314463..22573209hg19UCSC Ensembl
Innerchr22:20644463..20903209hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38258727
hg19258747
hg18258747
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893445
Supporting Variants
Samples
Known GenesTOP3B
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=114
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787840
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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