A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752248



Internal ID12985800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2490787..2742543hg38UCSC Ensembl
Innerchr8:2347903..2600072hg19UCSC Ensembl
Innerchr8:2335310..2587479hg18UCSC Ensembl
Innerchr8:2335310..2587479hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38251757
hg19252170
hg18252170
hg17252170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv241e55
Supporting Variantsessv6983567, essv6986459, essv6986458, essv6988686, essv6983566
SamplesBEC_668
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)esv2752248
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer