A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4420n100



Internal ID22790507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:26910341..26924070hg38UCSC Ensembl
chr21:28282660..28296389hg19UCSC Ensembl
chr21:27204531..27218260hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3813730
hg1913730
hg1813730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063371, nsv1066904, nsv1065825
Samples
Known GenesADAMTS5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4420n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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