A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1580n100



Internal ID22787667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130993694..131415578hg38UCSC Ensembl
chr12:131478239..131900123hg19UCSC Ensembl
chr12:130044192..130466076hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38421885
hg19421885
hg18421885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1036192, nsv1040478, nsv1053022
Samples
Known GenesGPR133, LOC116437, LOC338797
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1580n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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