A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987595



Internal ID12976982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2492266..2692015hg38UCSC Ensembl
Innerchr8:2349382..2549517hg19UCSC Ensembl
Innerchr8:2336789..2536924hg18UCSC Ensembl
Innerchr8:2336789..2536924hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38199750
hg19200136
hg18200136
hg17200136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752250
Supporting Variants
SamplesBEC_705
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987595
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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