A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14723716



Internal ID4725532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49539436..49701818hg38UCSC Ensembl
chr13:50113572..50275954hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38162383
hg19162383
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632050
Supporting Variants
SamplesHG03895
Known GenesARL11, EBPL, KPNA3, RCBTB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14723716
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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