A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5054891



Internal ID8130203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108825322..108829252hg38UCSC Ensembl
Innerchr1:109367944..109371874hg19UCSC Ensembl
Innerchr1:109169467..109173397hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383931
hg193931
hg183931
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421353
Supporting Variants
SamplesNA18563
Known GenesAKNAD1
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)essv5054891
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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