A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3111n100



Internal ID20154727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18380373..18662110hg38UCSC Ensembl
chr17:18283687..18565423hg19UCSC Ensembl
chr17:18224412..18506148hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38281738
hg19281737
hg18281737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066638, nsv1056700, nsv1065717, nsv1057226, nsv1057816, nsv1056718
Samples
Known GenesCCDC144B, EVPLL, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, TBC1D28, USP32P2, ZNF286B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3111n100
Frequency
Sample Size29084
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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