A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3144n100



Internal ID20154760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36089191..36265379hg38UCSC Ensembl
chr17:34416537..34629684hg19UCSC Ensembl
chr17:31440650..31653797hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38176189
hg19213148
hg18213148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059663, nsv1061409, nsv1060494, nsv1060967, nsv1055351, nsv1062339, nsv1059115, nsv1057186, nsv1055927, nsv1062422, nsv1066245, nsv1057170, nsv1066803, nsv1067105, nsv1058501, nsv1065968, nsv1056010, nsv1057748, nsv1065430, nsv1065666, nsv1065491
Samples
Known GenesCCL3, CCL3L1, CCL3L3, CCL4, CCL4L1, CCL4L2, TBC1D3B, TBC1D3H
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3144n100
Frequency
Sample Size29084
Observed Gain611
Observed Loss0
Observed Complex0
Frequencyn/a


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