A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13128915



Internal ID3130731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17877278..17897727hg38UCSC Ensembl
chr8:17734787..17755236hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3820450
hg1920450
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616503
Supporting Variants
SamplesNA12843
Known GenesFGL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13128915
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