A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1493n100



Internal ID22787580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41765152..41860571hg38UCSC Ensembl
chr12:42158954..42254373hg19UCSC Ensembl
chr12:40445221..40540640hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3895420
hg1995420
hg1895420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047870, nsv1037646, nsv1041975
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)dgv1493n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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