A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985273



Internal ID12983029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136708152..136829491hg38UCSC Ensembl
Innerchr8:137720395..137841734hg19UCSC Ensembl
Innerchr8:137789577..137910916hg18UCSC Ensembl
Innerchr8:137789577..137910916hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38121340
hg19121340
hg18121340
hg17121340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752238
Supporting Variants
SamplesSPC_133
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985273
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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