A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5021400



Internal ID8249956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15758448..15766844hg38UCSC Ensembl
Innerchr4:15760071..15768467hg19UCSC Ensembl
Innerchr4:15369169..15377565hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg388397
hg198397
hg188397
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421413
Supporting Variants
SamplesNA21718
Known Genes
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)essv5021400
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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