A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989941



Internal ID12976751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:121858925..121932748hg38UCSC Ensembl
Innerchr8:122871164..122944987hg19UCSC Ensembl
Innerchr8:122940345..123014168hg18UCSC Ensembl
Innerchr8:122940345..123014168hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3873824
hg1973824
hg1873824
hg1773824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752207
Supporting Variants
SamplesBEC_687
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989941
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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