A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1351n100



Internal ID22787438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7801358..7927734hg38UCSC Ensembl
chr12:7953954..8080330hg19UCSC Ensembl
chr12:7845221..7971597hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38126377
hg19126377
hg18126377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048059, nsv1040774, nsv1047648, nsv1042399, nsv1036564
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1351n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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