A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14782227



Internal ID4626183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:67746807..67755711hg38UCSC Ensembl
chr13:68320939..68329843hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg388905
hg198905
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632566
Supporting Variants
SamplesHG04158
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14782227
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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