A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982530



Internal ID12628446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8252963..8307482hg38UCSC Ensembl
Innerchr8:8110485..8165004hg19UCSC Ensembl
Innerchr8:8147895..8202414hg18UCSC Ensembl
Innerchr8:8147895..8202414hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3854520
hg1954520
hg1854520
hg1754520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752266
Supporting Variants
SamplesBEC_563
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982530
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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