A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5136568



Internal ID8101985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1576544..1613247hg38UCSC Ensembl
Innerchr20:1557190..1593893hg19UCSC Ensembl
Innerchr20:1505190..1541893hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3836704
hg1936704
hg1836704
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421429
Supporting Variants
SamplesNA12005
Known GenesSIRPB1
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)essv5136568
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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