A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5030851



Internal ID8250279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509223..68637963hg38UCSC Ensembl
Innerchr4:69374941..69503681hg19UCSC Ensembl
Innerchr4:69057536..69186276hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38128741
hg19128741
hg18128741
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421501
Supporting Variants
SamplesNA21722
Known GenesUGT2B17
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)essv5030851
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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