A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14680750



Internal ID3941472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30009585..30141454hg38UCSC Ensembl
chr13:30583722..30715591hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38131870
hg19131870
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631662
Supporting Variants
SamplesHG03594
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14680750
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer