A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5143988



Internal ID8171874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143920939..144029040hg38UCSC Ensembl
Innerchr4:144842092..144950193hg19UCSC Ensembl
Innerchr4:145061542..145169643hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38108102
hg19108102
hg18108102
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421355
Supporting Variants
SamplesNA19248
Known GenesGYPB
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)essv5143988
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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