A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34254



Internal ID12643607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179322393..179534709hg38UCSC Ensembl
Innerchr5:178749394..178961710hg19UCSC Ensembl
Innerchr5:178682000..178894316hg18UCSC Ensembl
Innerchr5:178682000..178894316hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38212317
hg19212317
hg18212317
hg17212317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv210e55
Supporting Variantsessv6987010, essv6990446, essv6980125, essv6980124, essv6980126
SamplesNA18956
Known GenesADAMTS2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34254
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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