A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14782684



Internal ID4273854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68369240..68466526hg38UCSC Ensembl
chr13:68943372..69040658hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3897287
hg1997287
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632593
Supporting Variants
SamplesHG03838
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14782684
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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