A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984200



Internal ID12977843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13367297..13460740hg38UCSC Ensembl
Innerchr8:13224806..13318249hg19UCSC Ensembl
Innerchr8:13269177..13362620hg18UCSC Ensembl
Innerchr8:13269177..13362620hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3893444
hg1993444
hg1893444
hg1793444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752209
Supporting Variants
SamplesBEC_8
Known GenesDLC1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984200
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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