A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5003004



Internal ID8116437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78628966..78633507hg38UCSC Ensembl
Innerchr13:79203101..79207642hg19UCSC Ensembl
Innerchr13:78101102..78105643hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg384542
hg194542
hg184542
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421781
Supporting Variants
SamplesNA17989
Known GenesRNF219
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)essv5003004
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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