A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3273n100



Internal ID19013641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60293516..60519251hg38UCSC Ensembl
chr17:58370877..58596612hg19UCSC Ensembl
chr17:55725659..55951394hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38225736
hg19225736
hg18225736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064730, nsv1055385
Samples
Known GenesAPPBP2, C17orf64, USP32
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3273n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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