A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344710



Internal ID15191694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16367190..16386788hg38UCSC Ensembl
Innerchr22:16368190..16385788hg38UCSC Ensembl
Outerchr22:16367189..16387724hg38UCSC Ensembl
chr22:16847852..16867450hg19UCSC Ensembl
Innerchr22:16848852..16866450hg19UCSC Ensembl
Outerchr22:16847851..16868450hg19UCSC Ensembl
chr22:15227852..15247450hg18UCSC Ensembl
Innerchr22:15228852..15246450hg18UCSC Ensembl
Outerchr22:15226852..15248450hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3819599
hg1919599
hg1819599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2552e59
Supporting Variantsessv8693004
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344710
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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