A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421554



Internal ID8252002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:114681489..114716134hg38UCSC Ensembl
Innerchr8:115693718..115728363hg19UCSC Ensembl
Innerchr8:115762894..115797539hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3834646
hg1934646
hg1834646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5081399, essv5083002, essv5101821, essv5077475, essv5130579, essv5126538, essv5046830, essv5069472, essv5073630, essv5151704, essv5151555, essv5002221
SamplesNA21526, NA21650, NA21420, NA21414, NA21587, NA21485, NA21302, NA21314, NA21527, NA21303, NA21487, NA21421
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)esv2421554
Frequency
Sample Size1184
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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