A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1562n100



Internal ID22787649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116916099..116962783hg38UCSC Ensembl
chr12:117353904..117400588hg19UCSC Ensembl
chr12:115838287..115884971hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3846685
hg1946685
hg1846685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1046811, nsv1048942
Samples
Known GenesFBXW8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1562n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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