A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14709927



Internal ID4711743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42914540..43269696hg38UCSC Ensembl
chr13:43488676..43843832hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38355157
hg19355157
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631903
Supporting Variants
SamplesHG01142
Known GenesDNAJC15, ENOX1, EPSTI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14709927
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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