A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978325



Internal ID12635091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179293967..179534709hg38UCSC Ensembl
Innerchr5:178720968..178961710hg19UCSC Ensembl
Innerchr5:178653574..178894316hg18UCSC Ensembl
Innerchr5:178653574..178894316hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38240743
hg19240743
hg18240743
hg17240743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34709
Supporting Variants
SamplesNA19000
Known GenesADAMTS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978325
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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