A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv329e214



Internal ID18980504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42914540..43294285hg38UCSC Ensembl
chr13:43488676..43868421hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38379746
hg19379746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3631903, esv3631904
SamplesHG01142, HG02814, HG00341, HG03937
Known GenesDNAJC15, ENOX1, EPSTI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv329e214
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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