A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4883n100



Internal ID22790970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130057003..130109235hg38UCSC Ensembl
chr3:129775846..129828078hg19UCSC Ensembl
chr3:131258536..131310768hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3852233
hg1952233
hg1852233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999115, nsv1003380, nsv1011163
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4883n100
Frequency
Sample Size11257
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer