A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1397n100



Internal ID20153013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18409166..18421951hg38UCSC Ensembl
chr12:18562100..18574885hg19UCSC Ensembl
chr12:18453367..18466152hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3812786
hg1912786
hg1812786
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041269, nsv1038967, nsv1037977
Samples
Known GenesPIK3C2G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1397n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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