A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14812322



Internal ID4137158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79199236..79375478hg38UCSC Ensembl
chr13:79773371..79949613hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38176243
hg19176243
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632816
Supporting Variants
SamplesHG03746
Known GenesRBM26
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14812322
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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