A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1546n100



Internal ID22787633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90076038..90133970hg38UCSC Ensembl
chr12:90469815..90527747hg19UCSC Ensembl
chr12:88993946..89051878hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3857933
hg1957933
hg1857933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1036044, nsv1039776
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1546n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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