A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14821619



Internal ID4558572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:82899119..82916584hg38UCSC Ensembl
chr13:83473254..83490719hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3817466
hg1917466
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632898
Supporting Variants
SamplesHG04060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14821619
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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