A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985175



Internal ID12982904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2490787..2710925hg38UCSC Ensembl
Innerchr8:2347903..2568463hg19UCSC Ensembl
Innerchr8:2335310..2555870hg18UCSC Ensembl
Innerchr8:2335310..2555870hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38220139
hg19220561
hg18220561
hg17220561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752247
Supporting Variants
SamplesSPC_113
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985175
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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