A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980124



Internal ID12634602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179322393..179482393hg38UCSC Ensembl
Innerchr5:178749394..178909394hg19UCSC Ensembl
Innerchr5:178682000..178842000hg18UCSC Ensembl
Innerchr5:178682000..178842000hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38160001
hg19160001
hg18160001
hg17160001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34254
Supporting Variants
SamplesNA18956
Known GenesADAMTS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980124
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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