A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1325n100



Internal ID22787412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45001..98691hg38UCSC Ensembl
chr12:150430..207857hg19UCSC Ensembl
chr12:20691..78118hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3853691
hg1957428
hg1857428
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052862, nsv1035683
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1325n100
Frequency
Sample Size11257
Observed Gain9
Observed Loss9
Observed Complex0
Frequencyn/a


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