A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1399n100



Internal ID22787486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19312553..19436142hg38UCSC Ensembl
chr12:19465487..19589076hg19UCSC Ensembl
chr12:19356754..19480343hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38123590
hg19123590
hg18123590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049833, nsv1041322, nsv1045972, nsv1046831, nsv1035292, nsv1054138, nsv1052964, nsv1035559, nsv1047672, nsv1047421, nsv1036416, nsv1046492, nsv1052998, nsv1045392, nsv1044291, nsv1052125, nsv1052961, nsv1049907, nsv1055100, nsv1037334, nsv1042244
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1399n100
Frequency
Sample Size11257
Observed Gain121
Observed Loss0
Observed Complex0
Frequencyn/a


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