A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752270



Internal ID12985822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:95438219..95446966hg38UCSC Ensembl
Innerchr8:96450447..96459194hg19UCSC Ensembl
Innerchr8:96519623..96528370hg18UCSC Ensembl
Innerchr8:96519623..96528370hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg388748
hg198748
hg188748
hg178748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984155, essv6984156, essv6989919
SamplesBEC_789
Known GenesLOC100616530
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)esv2752270
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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