A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421741



Internal ID7905503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30628421..30797323hg38UCSC Ensembl
Innerchr15:30920624..31089526hg19UCSC Ensembl
Innerchr15:28707916..28876818hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38168903
hg19168903
hg18168903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5148177, essv5160809, essv5133375, essv5003296, essv5057072, essv5071722, essv5106562, essv5063675, essv5013202, essv5037622, essv5036721, essv5095209
SamplesNA18999, NA19057, NA18962, NA18960, NA19054, NA18964, NA18973, NA19077, NA18981, NA19101, NA19072, NA18972
Known GenesARHGAP11B, LOC100288637
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)esv2421741
Frequency
Sample Size1184
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer