A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14774677



Internal ID5164850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:65222881..65318772hg38UCSC Ensembl
chr13:65797013..65892904hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3895892
hg1995892
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632470
Supporting Variants
SamplesNA18595
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14774677
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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