A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3282n100



Internal ID19013650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73814343..74719597hg38UCSC Ensembl
chr17:71810482..72715736hg19UCSC Ensembl
chr17:69322077..70227331hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38905255
hg19905255
hg18905255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056322, nsv1056399, nsv1059570, nsv1063933, nsv1061965, nsv1066852, nsv1067319, nsv1060171, nsv1064939, nsv1055161, nsv1066636, nsv1055272, nsv1061552, nsv1065114, nsv1058819, nsv1059520
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, DNAI2, GPR142, GPRC5C, KIF19, LINC00469, MGC16275, RAB37, RPL38, TTYH2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3282n100
Frequency
Sample Size29084
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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