A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1332n100



Internal ID20152948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:461781..508815hg38UCSC Ensembl
chr12:570947..617981hg19UCSC Ensembl
chr12:441208..488242hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3847035
hg1947035
hg1847035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1043882, nsv1041913, nsv1035476, nsv1038820, nsv1047044, nsv1038998, nsv1051149, nsv1054692
Samples
Known GenesB4GALNT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1332n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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