A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752193



Internal ID12985745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:100800596..100902739hg38UCSC Ensembl
Innerchr8:101812824..101914967hg19UCSC Ensembl
Innerchr8:101882000..101984143hg18UCSC Ensembl
Innerchr8:101882000..101984143hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38102144
hg19102144
hg18102144
hg17102144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985408, essv6980781, essv6980782
SamplesBEC_149
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752193
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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