A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5130269



Internal ID8223996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111570373..111575348hg38UCSC Ensembl
Innerchr5:110906071..110911045hg19UCSC Ensembl
Innerchr5:110933970..110938944hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg384976
hg194975
hg184975
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422075
Supporting Variants
SamplesNA21088
Known GenesSTARD4-AS1
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)essv5130269
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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