A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5104515



Internal ID8148858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109681762..109700331hg38UCSC Ensembl
Innerchr1:110224384..110242953hg19UCSC Ensembl
Innerchr1:110025907..110044476hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3818570
hg1918570
hg1818570
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421364
Supporting Variants
SamplesNA18973
Known GenesGSTM1, GSTM2
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)essv5104515
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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