A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1489n100



Internal ID22787576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39786596..39850199hg38UCSC Ensembl
chr12:40180398..40244001hg19UCSC Ensembl
chr12:38466665..38530268hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3863604
hg1963604
hg1863604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040628, nsv1052012
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)dgv1489n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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