A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857779



Internal ID5859595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45997152..46084535hg38UCSC Ensembl
chr18:43577118..43664501hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3887384
hg1987384
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642422
Supporting Variants
SamplesHG02585
Known GenesATP5A1, PSTPIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857779
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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