A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15860268



Internal ID3478564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47646127..47666463hg38UCSC Ensembl
chr18:45172498..45192834hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3820337
hg1920337
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642462
Supporting Variants
SamplesHG03095
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15860268
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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