A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1544n100



Internal ID22787631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90046848..90099921hg38UCSC Ensembl
chr12:90440625..90493698hg19UCSC Ensembl
chr12:88964756..89017829hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3853074
hg1953074
hg1853074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041937, nsv1053151, nsv1047458
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)dgv1544n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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