A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1373n100



Internal ID22787460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9474630..9591203hg38UCSC Ensembl
chr12:9627226..9743799hg19UCSC Ensembl
chr12:9518493..9635066hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38116574
hg19116574
hg18116574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053547, nsv1049287, nsv1055030, nsv1053975, nsv1050850, nsv1039738, nsv1037434, nsv1044915
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)dgv1373n100
Frequency
Sample Size11257
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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