A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857874



Internal ID5859690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46704778..46833888hg38UCSC Ensembl
chr18:44284741..44413851hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38129111
hg19129111
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642440
Supporting Variants
SamplesHG03738
Known GenesPIAS2, ST8SIA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857874
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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