A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1380n100



Internal ID22787467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11334708..11428828hg38UCSC Ensembl
chr12:11487642..11581762hg19UCSC Ensembl
chr12:11378909..11473029hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3894121
hg1994121
hg1894121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042779, nsv1052820, nsv1046062, nsv1042253, nsv1053925, nsv1036331
Samples
Known GenesPRB1, PRB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1380n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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