A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752214



Internal ID12985766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136665653..136844071hg38UCSC Ensembl
Innerchr8:137677896..137856314hg19UCSC Ensembl
Innerchr8:137747078..137925496hg18UCSC Ensembl
Innerchr8:137747078..137925496hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38178419
hg19178419
hg18178419
hg17178419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252e55
Supporting Variantsessv6989854, essv6983778, essv6983777, essv6983776, essv6989855
SamplesBEC_625
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)esv2752214
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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