A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1396n100



Internal ID22787483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18068630..18164118hg38UCSC Ensembl
chr12:18221564..18317052hg19UCSC Ensembl
chr12:18112831..18208319hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3895489
hg1995489
hg1895489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050071, nsv1043308, nsv1048868
Samples
Known GenesRERGL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1396n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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