A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421687



Internal ID8252135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:61392006..61405782hg38UCSC Ensembl
Innerchr15:61684205..61697981hg19UCSC Ensembl
Innerchr15:59471497..59485273hg18UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3813777
hg1913777
hg1813777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5092538, essv5140021, essv5007769, essv5148717, essv5090152, essv5141792, essv5039984, essv5052786, essv5121477, essv5113368, essv5045359, essv5133848, essv5014858, essv5030391, essv5122862, essv5128169, essv5058378, essv5063689, essv5058077, essv5103224
SamplesNA12842, NA12045, NA20332, NA12832, NA12399, NA20756, NA10853, NA10850, NA20885, NA20809, NA20525, NA12386, NA11893, NA11894, NA10852, NA20534, NA12864, NA12873, NA20516, NA10864
Known Genes
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)esv2421687
Frequency
Sample Size1184
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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