A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590291



Internal ID6630578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33491091..33502308hg38UCSC Ensembl
chr2:33716158..33727375hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3811218
hg1911218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10451263
SamplesNA19085
Known GenesRASGRP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590291
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