A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621898



Internal ID6662074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131733919..131887845hg38UCSC Ensembl
chr9:134609306..134763232hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38153927
hg19153927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13633344
SamplesNA21088
Known GenesMED27, RAPGEF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621898
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