A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14782614



Internal ID746678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67830050..67838593hg38UCSC Ensembl
chr13:68404182..68412725hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg388544
hg198544
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632572
Supporting Variants
SamplesHG00351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14782614
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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