A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421665



Internal ID7905427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:4330954..4335455hg38UCSC Ensembl
Innerchr18:4330954..4335455hg19UCSC Ensembl
Innerchr18:4320954..4325455hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg384502
hg194502
hg184502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5014916, essv5079529, essv5059608, essv5034691, essv5158953, essv5146589, essv5098707, essv5010113, essv5100495, essv5142968, essv5123536, essv5009531, essv5097199, essv5056517, essv5089884, essv5003139, essv5059452, essv5134759, essv5072986, essv5073389, essv5067544, essv5007852, essv5005090, essv5007161, essv5115095, essv5078905, essv5026442, essv5152379, essv5060968, essv5068831, essv5057483
SamplesNA21403, NA19258, NA19350, NA21386, NA18504, NA19916, NA19215, NA19371, NA21400, NA19788, NA20126, NA18503, NA19142, NA19257, NA18858, NA19712, NA19140, NA21368, NA19835, NA21740, NA21388, NA21404, NA19223, NA18509, NA21384, NA19213, NA21509, NA20128, NA19224, NA18511, NA21491
Known GenesDLGAP1
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)esv2421665
Frequency
Sample Size1184
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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