A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1430n100



Internal ID22787517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33136012..33154428hg38UCSC Ensembl
chr12:33288946..33307362hg19UCSC Ensembl
chr12:33180213..33198629hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3818417
hg1918417
hg1818417
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045469, nsv1048692
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)dgv1430n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss21
Observed Complex0
Frequencyn/a


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