A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1545n100



Internal ID22787632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90049705..90089561hg38UCSC Ensembl
chr12:90443482..90483338hg19UCSC Ensembl
chr12:88967613..89007469hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3839857
hg1939857
hg1839857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035764, nsv1054436
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1545n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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