A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4864n100



Internal ID22790951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130022511..130141770hg38UCSC Ensembl
chr3:129741354..129860613hg19UCSC Ensembl
chr3:131224044..131343303hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38119260
hg19119260
hg18119260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999629, nsv1002320, nsv1003793, nsv1005177, nsv1005618
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)dgv4864n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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