A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16371085



Internal ID6372902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21960944..22005872hg38UCSC Ensembl
chr22:22315316..22360270hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3844929
hg1944955
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647327
Supporting Variants
SamplesHG02891
Known GenesTOP3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16371085
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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