A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983375



Internal ID12976191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136660709..136851683hg38UCSC Ensembl
Innerchr8:137672952..137863926hg19UCSC Ensembl
Innerchr8:137742134..137933108hg18UCSC Ensembl
Innerchr8:137742134..137933108hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38190975
hg19190975
hg18190975
hg17190975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752212
Supporting Variants
SamplesBEC_644
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983375
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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