A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1490n100



Internal ID22787577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39909703..39920939hg38UCSC Ensembl
chr12:40303505..40314741hg19UCSC Ensembl
chr12:38589772..38601008hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3811237
hg1911237
hg1811237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1051380, nsv1048984, nsv1038858, nsv1050847
Samples
Known GenesSLC2A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1490n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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