A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984042



Internal ID12630906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8211609..8288409hg38UCSC Ensembl
Innerchr8:8069131..8145931hg19UCSC Ensembl
Innerchr8:8106541..8183341hg18UCSC Ensembl
Innerchr8:8106541..8183341hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3876801
hg1976801
hg1876801
hg1776801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752265
Supporting Variants
SamplesBEC_758
Known GenesFAM86B3P
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984042
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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