A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752075



Internal ID12985627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:659490..823705hg38UCSC Ensembl
Innerchr5:659605..823820hg19UCSC Ensembl
Innerchr5:712605..876820hg18UCSC Ensembl
Innerchr5:712605..876820hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38164216
hg19164216
hg18164216
hg17164216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv195e55
Supporting Variantsessv6981637, essv6981638
SamplesBEC_310
Known GenesTPPP, ZDHHC11
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)esv2752075
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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