A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6273n100



Internal ID20157889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12469601..12518631hg38UCSC Ensembl
chr7:12509227..12558257hg19UCSC Ensembl
chr7:12475752..12524782hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3849031
hg1949031
hg1849031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027708, nsv1017055, nsv1022047, nsv1027185, nsv1028361
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)dgv6273n100
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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