A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5068835



Internal ID7812693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46166132..46281567hg38UCSC Ensembl
Innerchr10:47537368..47652803hg19UCSC Ensembl
Innerchr10:47007374..47122809hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38115436
hg19115436
hg18115436
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421526
Supporting Variants
SamplesNA20360
Known GenesANTXRLP1
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)essv5068835
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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