A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857773



Internal ID5859589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45815473..45846664hg38UCSC Ensembl
chr18:43395438..43426629hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3831192
hg1931192
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642416
Supporting Variants
SamplesNA19909
Known GenesSIGLEC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857773
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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