A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752212



Internal ID12985764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136660709..136851683hg38UCSC Ensembl
Innerchr8:137672952..137863926hg19UCSC Ensembl
Innerchr8:137742134..137933108hg18UCSC Ensembl
Innerchr8:137742134..137933108hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38190975
hg19190975
hg18190975
hg17190975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252e55
Supporting Variantsessv6983376, essv6983375, essv6989779
SamplesBEC_644
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)esv2752212
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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