A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989418



Internal ID12977833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13378589..13414578hg38UCSC Ensembl
Innerchr8:13236098..13272087hg19UCSC Ensembl
Innerchr8:13280469..13316458hg18UCSC Ensembl
Innerchr8:13280469..13316458hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3835990
hg1935990
hg1835990
hg1735990
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)essv6989418
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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