A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643289



Internal ID7030058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79087927..79251969hg38UCSC Ensembl
chr18:76847927..77011969hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38164043
hg19164043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15955982
SamplesNA19058
Known GenesATP9B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643289
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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