A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982215



Internal ID12973362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136708152..136813730hg38UCSC Ensembl
Innerchr8:137720395..137825973hg19UCSC Ensembl
Innerchr8:137789577..137895155hg18UCSC Ensembl
Innerchr8:137789577..137895155hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38105579
hg19105579
hg18105579
hg17105579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752231
Supporting Variants
SamplesBEC_402
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982215
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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