A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11827424



Internal ID6266939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:18873704..18981075hg38UCSC Ensembl
chr5:18873813..18981184hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38107372
hg19107372
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604245
Supporting Variants
SamplesNA19786
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11827424
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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