A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16414535



Internal ID2579095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36224551..36308255hg38UCSC Ensembl
chr22:36620597..36704301hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3883705
hg1983705
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647682
Supporting Variants
SamplesHG02284
Known GenesAPOL1, APOL2, MIR6819, MYH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16414535
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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