A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618490



Internal ID7005372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114272205..114402236hg38UCSC Ensembl
chr8:115284434..115414465hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38130032
hg19130032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13294021
SamplesHG01369
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618490
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