A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14782658



Internal ID573704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68172953..68188216hg38UCSC Ensembl
chr13:68747085..68762348hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3815264
hg1915264
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632585
Supporting Variants
SamplesHG00252
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14782658
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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