A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647352



Internal ID6687407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22228240..22331920hg38UCSC Ensembl
chr22:22582636..22686278hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38103681
hg19103643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16374392
SamplesNA20763
Known GenesBMS1P20, VPREB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647352
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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