A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752217



Internal ID12985769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136665653..136850575hg38UCSC Ensembl
Innerchr8:137677896..137862818hg19UCSC Ensembl
Innerchr8:137747078..137932000hg18UCSC Ensembl
Innerchr8:137747078..137932000hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38184923
hg19184923
hg18184923
hg17184923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252e55
Supporting Variantsessv6981754, essv6981753, essv6988008, essv6988009
SamplesBEC_333
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)esv2752217
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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