A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10209n54



Internal ID19002385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179218309..179286711hg38UCSC Ensembl
chr5:178645310..178713712hg19UCSC Ensembl
chr5:178577916..178646318hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3868403
hg1968403
hg1868403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv600498, nsv600500, nsv600499
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10209n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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