A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981112



Internal ID12972822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136805331hg38UCSC Ensembl
Innerchr8:137687955..137817574hg19UCSC Ensembl
Innerchr8:137757137..137886756hg18UCSC Ensembl
Innerchr8:137757137..137886756hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38129620
hg19129620
hg18129620
hg17129620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752223
Supporting Variants
SamplesBEC_353
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981112
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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