A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990500



Internal ID12982675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:249547..460640hg38UCSC Ensembl
Innerchr8:199547..410640hg19UCSC Ensembl
Innerchr8:189547..400640hg18UCSC Ensembl
Innerchr8:189547..400640hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38211094
hg19211094
hg18211094
hg17211094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34882
Supporting Variants
SamplesNA19211
Known GenesFAM87A, FBXO25
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990500
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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