A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792497



Internal ID18831111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18059545..18169093hg38UCSC Ensembl
Innerchr22:18542311..18651860hg19UCSC Ensembl
Innerchr22:16922311..17031860hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38109549
hg19109550
hg18109550
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893430
Supporting Variants
Samples
Known GenesPEX26, TUBA8, USP18
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=42
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792497
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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