A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983778



Internal ID12975908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136687575..136812575hg38UCSC Ensembl
Innerchr8:137699818..137824818hg19UCSC Ensembl
Innerchr8:137769000..137894000hg18UCSC Ensembl
Innerchr8:137769000..137894000hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38125001
hg19125001
hg18125001
hg17125001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752214
Supporting Variants
SamplesBEC_625
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983778
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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