A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4893n100



Internal ID22790980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130067830..130100783hg38UCSC Ensembl
chr3:129786673..129819626hg19UCSC Ensembl
chr3:131269363..131302316hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3832954
hg1932954
hg1832954
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006758, nsv1002890, nsv1005114
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)dgv4893n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss9
Observed Complex0
Frequencyn/a


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