A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989919



Internal ID12977767
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 StatusS
Merged Variantsesv2752270
Supporting Variants
SamplesBEC_789
Known GenesLOC100616530
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989919
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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