A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16371058



Internal ID6372875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21955959..22114932hg38UCSC Ensembl
chr22:22310331..22469324hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38158974
hg19158994
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647325
Supporting Variants
SamplesHG00525
Known GenesTOP3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16371058
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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