A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1508n100



Internal ID22787595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59051185..59132661hg38UCSC Ensembl
chr12:59444966..59526442hg19UCSC Ensembl
chr12:57731233..57812709hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3881477
hg1981477
hg1881477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047257, nsv1050662
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)dgv1508n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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