A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1447n100



Internal ID22787534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:34282029..34701551hg38UCSC Ensembl
chr12:34434964..34854486hg19UCSC Ensembl
chr12:34326231..34745753hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38419523
hg19419523
hg18419523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050752, nsv1046826, nsv1044018, nsv1037602, nsv1046347, nsv1047463
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1447n100
Frequency
Sample Size11257
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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