A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1407n100



Internal ID20153023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27493041..27506809hg38UCSC Ensembl
chr12:27645974..27659742hg19UCSC Ensembl
chr12:27537241..27551009hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3813769
hg1913769
hg1813769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053243, nsv1043312, nsv1041142, nsv1045840, nsv1054525
Samples
Known GenesSMCO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1407n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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