A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596491



Internal ID6636762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69103966..69119758hg38UCSC Ensembl
chr3:69153117..69168909hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3815793
hg1915793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11035671
SamplesHG01111
Known GenesARL6IP5, LMOD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596491
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