A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1359n100



Internal ID19011727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8168291..8296504hg38UCSC Ensembl
chr12:8320887..8449100hg19UCSC Ensembl
chr12:8212154..8340367hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38128214
hg19128214
hg18128214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041279, nsv1038563, nsv1042365
Samples
Known GenesFAM66C, FAM86FP, FAM90A1, ZNF705A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1359n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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