A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5847n100



Internal ID19016215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179293967..179504309hg38UCSC Ensembl
chr5:178720968..178931310hg19UCSC Ensembl
chr5:178653574..178863916hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38210343
hg19210343
hg18210343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022321, nsv1015647, nsv1020794, nsv1024805
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5847n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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