A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331783



Internal ID15178772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18176185..18178983hg38UCSC Ensembl
Innerchr22:18177185..18177983hg38UCSC Ensembl
Outerchr22:18175185..18179983hg38UCSC Ensembl
chr22:18658952..18661750hg19UCSC Ensembl
Innerchr22:18659952..18660750hg19UCSC Ensembl
Outerchr22:18657952..18662750hg19UCSC Ensembl
chr22:17038952..17041750hg18UCSC Ensembl
Innerchr22:17039952..17040750hg18UCSC Ensembl
Outerchr22:17037952..17042750hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693045
SamplesNA12878
Known GenesUSP18
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331783
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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