A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893430



Internal ID18837564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18059545..18169093hg38UCSC Ensembl
Outerchr22:18059545..18169093hg38UCSC Ensembl
Innerchr22:18542311..18651860hg19UCSC Ensembl
Outerchr22:18542311..18651860hg19UCSC Ensembl
Innerchr22:16922311..17031860hg18UCSC Ensembl
Outerchr22:16922311..17031860hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38109549
hg19109550
hg18109550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792497
Samples
Known GenesPEX26, TUBA8, USP18
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893430
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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