A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1646n100



Internal ID22787733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:47507430..47545825hg38UCSC Ensembl
chr13:48081565..48119960hg19UCSC Ensembl
chr13:46979566..47017961hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3838396
hg1938396
hg1838396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1043240, nsv1043473, nsv1039986
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)dgv1646n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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