A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1547n100



Internal ID20153163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97599906..97815845hg38UCSC Ensembl
chr12:97993684..98209623hg19UCSC Ensembl
chr12:96517815..96733754hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38215940
hg19215940
hg18215940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044240, nsv1046018, nsv1041807
Samples
Known GenesLOC643711
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1547n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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