A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3262n100



Internal ID22789349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48657855..48707026hg38UCSC Ensembl
chr17:46735217..46784388hg19UCSC Ensembl
chr17:44090216..44139387hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3849172
hg1949172
hg1849172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061776, nsv1060733, nsv1055273, nsv1060931
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)dgv3262n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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