A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421371



Internal ID7905133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18996281..19001311hg38UCSC Ensembl
Innerchr8:18853791..18858821hg19UCSC Ensembl
Innerchr8:18898071..18903101hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg385031
hg195031
hg185031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5096757, essv5150285, essv5010328, essv5113352, essv5097984, essv5112926, essv5108403, essv5063586, essv5113034, essv5069829, essv5095977, essv5024243, essv5013536, essv5042512, essv5140705, essv5145835, essv5122958, essv5003188, essv5024743, essv5070325, essv5066765, essv5028894, essv5077004, essv5073548, essv5088147, essv5110560, essv5026032, essv5027404, essv5069010, essv5034075, essv5026983
SamplesNA19445, NA20771, NA19222, NA21580, NA19469, NA21575, NA21600, NA21098, NA20277, NA21457, NA19474, NA19438, NA10863, NA19726, NA21111, NA19429, NA21683, NA12234, NA20589, NA19324, NA19703, NA21318, NA20910, NA21434, NA21574, NA19705, NA19221, NA21632, NA19452, NA21362, NA19448
Known GenesPSD3
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)esv2421371
Frequency
Sample Size1184
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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