A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1494n100



Internal ID22787581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41827681..41860571hg38UCSC Ensembl
chr12:42221483..42254373hg19UCSC Ensembl
chr12:40507750..40540640hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3832891
hg1932891
hg1832891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1051707, nsv1055012
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)dgv1494n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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