A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5145880



Internal ID8209853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14722007..14758541hg38UCSC Ensembl
Innerchr18:14722006..14758540hg19UCSC Ensembl
Innerchr18:14712006..14748540hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3836535
hg1936535
hg1836535
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421993
Supporting Variants
SamplesNA20582
Known GenesANKRD30B
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)essv5145880
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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