A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752245



Internal ID12985797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16813701..16955872hg38UCSC Ensembl
Innerchr8:16671210..16813381hg19UCSC Ensembl
Innerchr8:16715581..16857752hg18UCSC Ensembl
Innerchr8:16715581..16857752hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38142172
hg19142172
hg18142172
hg17142172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984469, essv6984468, essv6988808, essv6984470
SamplesBEC_708
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)esv2752245
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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