A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1379n100



Internal ID22787466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11328320..11402077hg38UCSC Ensembl
chr12:11481254..11555011hg19UCSC Ensembl
chr12:11372521..11446278hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3873758
hg1973758
hg1873758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1051639, nsv1049572
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)dgv1379n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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