A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987010



Internal ID12634590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179331908..179504309hg38UCSC Ensembl
Innerchr5:178758909..178931310hg19UCSC Ensembl
Innerchr5:178691515..178863916hg18UCSC Ensembl
Innerchr5:178691515..178863916hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38172402
hg19172402
hg18172402
hg17172402
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987010
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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