A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642462



Internal ID7029232
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15860267, essv15860266, essv15860268
SamplesHG02852, HG03095, HG02837
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642462
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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