A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984304



Internal ID12976761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:121857412..121949609hg38UCSC Ensembl
Innerchr8:122869651..122961848hg19UCSC Ensembl
Innerchr8:122938832..123031029hg18UCSC Ensembl
Innerchr8:122938832..123031029hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3892198
hg1992198
hg1892198
hg1792198
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)essv6984304
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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