A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1514n100



Internal ID22787601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61391353..61436589hg38UCSC Ensembl
chr12:61785134..61830370hg19UCSC Ensembl
chr12:60071401..60116637hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3845237
hg1945237
hg1845237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1038629, nsv1054011, nsv1046122
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1514n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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