A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978324



Internal ID12635104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179293967..179481969hg38UCSC Ensembl
Innerchr5:178720968..178908970hg19UCSC Ensembl
Innerchr5:178653574..178841576hg18UCSC Ensembl
Innerchr5:178653574..178841576hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38188003
hg19188003
hg18188003
hg17188003
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978324
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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