A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752222



Internal ID12985774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136665653..136898857hg38UCSC Ensembl
Innerchr8:137677896..137911100hg19UCSC Ensembl
Innerchr8:137747078..137980282hg18UCSC Ensembl
Innerchr8:137747078..137980282hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38233205
hg19233205
hg18233205
hg17233205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252e55
Supporting Variantsessv6989886, essv6983956, essv6983957
SamplesBEC_737
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)esv2752222
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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