A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1378n100



Internal ID20152994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11068113..11175532hg38UCSC Ensembl
chr12:11220712..11328131hg19UCSC Ensembl
chr12:11111979..11219398hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38107420
hg19107420
hg18107420
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1043344, nsv1042134
Samples
Known GenesLOC100129361, PRH1-PRR4, TAS2R30, TAS2R43
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1378n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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