A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980378



Internal ID12978281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136677301..136812494hg38UCSC Ensembl
Innerchr8:137689544..137824737hg19UCSC Ensembl
Innerchr8:137758726..137893919hg18UCSC Ensembl
Innerchr8:137758726..137893919hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38135194
hg19135194
hg18135194
hg17135194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34900
Supporting Variants
SamplesNA07357
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980378
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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