A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14812927



Internal ID4814743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79393219..79532503hg38UCSC Ensembl
chr13:79967354..80106638hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38139285
hg19139285
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632819
Supporting Variants
SamplesHG03746
Known GenesNDFIP2, NDFIP2-AS1, RBM26, RBM26-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14812927
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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