A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1355n100



Internal ID22787442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7842179..7982484hg38UCSC Ensembl
chr12:7994775..8135080hg19UCSC Ensembl
chr12:7886042..8026347hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38140306
hg19140306
hg18140306
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053943, nsv1040284, nsv1041286, nsv1038351, nsv1035380, nsv1043914, nsv1053644, nsv1053928, nsv1041812, nsv1051099
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)dgv1355n100
Frequency
Sample Size11257
Observed Gain334
Observed Loss73
Observed Complex0
Frequencyn/a


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