A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14800957



Internal ID4341698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77408179..77413228hg38UCSC Ensembl
chr13:77982314..77987363hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg385050
hg195050
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632776
Supporting Variants
SamplesHG03884
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14800957
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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