A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10210n54



Internal ID19002386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179301829..179517406hg38UCSC Ensembl
chr5:178728830..178944407hg19UCSC Ensembl
chr5:178661436..178877013hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38215578
hg19215578
hg18215578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv600502, nsv600504, nsv600503
SamplesHGDP00791, HGDP00103, HGDP01203, HGDP01210, HGDP01349, HGDP01228
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10210n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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