A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647291



Internal ID7034032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20274867..20312239hg38UCSC Ensembl
chr22:20262390..20299762hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3837373
hg1937373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16370130
SamplesHG01516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647291
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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