A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5034555



Internal ID8233724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233740062..233749977hg38UCSC Ensembl
Innerchr2:234648708..234658623hg19UCSC Ensembl
Innerchr2:234313447..234323362hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg389916
hg199916
hg189916
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422005
Supporting Variants
SamplesNA21379
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
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)essv5034555
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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