A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618218



Internal ID6658413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102200369..102319026hg38UCSC Ensembl
chr8:103212597..103331254hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38118658
hg19118658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13269769
SamplesNA20542
Known GenesRRM2B, UBR5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618218
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