A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1566n100



Internal ID20153182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123610211..123711309hg38UCSC Ensembl
chr12:124094758..124195856hg19UCSC Ensembl
chr12:122660711..122761809hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38101099
hg19101099
hg18101099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040356, nsv1042866, nsv1041918
Samples
Known GenesDDX55, EIF2B1, GTF2H3, TCTN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1566n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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