A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1488n100



Internal ID22787575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38565843..38729051hg38UCSC Ensembl
chr12:38959645..39122853hg19UCSC Ensembl
chr12:37245912..37409120hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38163209
hg19163209
hg18163209
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039821, nsv1053316
Samples
Known GenesCPNE8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1488n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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