A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412576



Internal ID15259535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16367190..16381888hg38UCSC Ensembl
Innerchr22:16368190..16380888hg38UCSC Ensembl
Outerchr22:16367189..16382888hg38UCSC Ensembl
chr22:16847852..16862550hg19UCSC Ensembl
Innerchr22:16848852..16861550hg19UCSC Ensembl
Outerchr22:16847851..16863550hg19UCSC Ensembl
chr22:15227852..15242550hg18UCSC Ensembl
Innerchr22:15228852..15241550hg18UCSC Ensembl
Outerchr22:15226852..15243550hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3814699
hg1914699
hg1814699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2552e59
Supporting Variantsessv8693001
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412576
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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