A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv673n100



Internal ID22786760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12049505..12137652hg38UCSC Ensembl
chr10:12091504..12179651hg19UCSC Ensembl
chr10:12131510..12219657hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3888148
hg1988148
hg1888148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040914, nsv1051967, nsv1047764, nsv1054266, nsv1038173, nsv1048567, nsv1036774, nsv1053416, nsv1053125, nsv1051412, nsv1047017, nsv1042316, nsv1038447, nsv1053838, nsv1050450, nsv1040508, nsv1044618
Samples
Known GenesDHTKD1, SEC61A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv673n100
Frequency
Sample Size11257
Observed Gain41
Observed Loss0
Observed Complex0
Frequencyn/a


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