A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982065



Internal ID12974359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136708152..136850192hg38UCSC Ensembl
Innerchr8:137720395..137862435hg19UCSC Ensembl
Innerchr8:137789577..137931617hg18UCSC Ensembl
Innerchr8:137789577..137931617hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38142041
hg19142041
hg18142041
hg17142041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752239
Supporting Variants
SamplesBEC_516
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982065
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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