A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35046



Internal ID12991082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17511604..17793434hg38UCSC Ensembl
Innerchr5:17511713..17793543hg19UCSC Ensembl
Innerchr5:17564713..17829300hg18UCSC Ensembl
Innerchr5:17564713..17829300hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38281831
hg19281831
hg18264588
hg17264588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978848, essv6978846, essv6988059, essv6978847, essv6978845
SamplesNA12740
Known Genes
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)esv35046
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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