A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984929



Internal ID12983739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136708575..136813575hg38UCSC Ensembl
Innerchr8:137720818..137825818hg19UCSC Ensembl
Innerchr8:137790000..137895000hg18UCSC Ensembl
Innerchr8:137790000..137895000hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38105001
hg19105001
hg18105001
hg17105001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752228
Supporting Variants
SamplesSPC_194
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984929
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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