A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1419n100



Internal ID22787506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31125097..31264445hg38UCSC Ensembl
chr12:31278031..31417379hg19UCSC Ensembl
chr12:31169298..31308646hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38139349
hg19139349
hg18139349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044042, nsv1042282, nsv1053809, nsv1051493, nsv1047324, nsv1041296, nsv1039200, nsv1040309, nsv1038049, nsv1052658, nsv1051571, nsv1041354, nsv1053516, nsv1036821, nsv1054485, nsv1044854, nsv1042614, nsv1051071, nsv1051419, nsv1046293, nsv1054212, nsv1042676, nsv1042499, nsv1037270, nsv1048277
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)dgv1419n100
Frequency
Sample Size11257
Observed Gain619
Observed Loss0
Observed Complex0
Frequencyn/a


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