A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631904



Internal ID6672029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42914564..43294285hg38UCSC Ensembl
Innerchr13:42914714..43294135hg38UCSC Ensembl
Outerchr13:42914414..43294435hg38UCSC Ensembl
chr13:43488700..43868421hg19UCSC Ensembl
Innerchr13:43488850..43868271hg19UCSC Ensembl
Outerchr13:43488550..43868571hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38379722
hg19379722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv329e214
Supporting Variantsessv14709931, essv14709930
SamplesHG01142, HG03937
Known GenesDNAJC15, ENOX1, EPSTI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631904
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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