A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5134256



Internal ID7878114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133429369..133563944hg38UCSC Ensembl
Innerchr10:135242873..135377448hg19UCSC Ensembl
Innerchr10:135092863..135227438hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38134576
hg19134576
hg18134576
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421904
Supporting Variants
SamplesNA21320
Known GenesCYP2E1, SCART1, SYCE1
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)essv5134256
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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