A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421675



Internal ID8252123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:101375810..101390714hg38UCSC Ensembl
Innerchr8:102388038..102402942hg19UCSC Ensembl
Innerchr8:102457214..102472118hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3814905
hg1914905
hg1814905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5159263, essv5104786, essv5102832, essv5013276, essv5029642, essv5132473, essv5035683, essv5039152, essv5091124, essv5107660, essv5079882, essv5012950
SamplesNA21520, NA21613, NA19456, NA21300, NA18910, NA21617, NA20282, NA21356, NA19140, NA21616, NA20357, NA19117
Known Genes
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421675
Frequency
Sample Size1184
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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