A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1492n100



Internal ID22787579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41637858..41666268hg38UCSC Ensembl
chr12:42031660..42060070hg19UCSC Ensembl
chr12:40317927..40346337hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3828411
hg1928411
hg1828411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040209, nsv1053183, nsv1053830
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)dgv1492n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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