A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1331n100



Internal ID19011699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:148770..207194hg38UCSC Ensembl
chr12:257936..316360hg19UCSC Ensembl
chr12:128197..186621hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3858425
hg1958425
hg1858425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047614, nsv1036669, nsv1044922
Samples
Known GenesIQSEC3, LOC574538, SLC6A12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1331n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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