A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334016



Internal ID15181003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45979308..45981206hg38UCSC Ensembl
Innerchr22:45980206..45980308hg38UCSC Ensembl
Outerchr22:45978308..45982206hg38UCSC Ensembl
chr22:46375188..46377086hg19UCSC Ensembl
Innerchr22:46376086..46376188hg19UCSC Ensembl
Outerchr22:46374188..46378086hg19UCSC Ensembl
chr22:44753852..44755750hg18UCSC Ensembl
Innerchr22:44754852..44754750hg18UCSC Ensembl
Outerchr22:44752852..44756750hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2623e59
Supporting Variantsessv8693323
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334016
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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