A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752216



Internal ID12985768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136665653..136850192hg38UCSC Ensembl
Innerchr8:137677896..137862435hg19UCSC Ensembl
Innerchr8:137747078..137931617hg18UCSC Ensembl
Innerchr8:137747078..137931617hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38184540
hg19184540
hg18184540
hg17184540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252e55
Supporting Variantsessv6985077, essv6990071, essv6985075, essv6985076
SamplesBEC_91
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)esv2752216
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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