A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421798



Internal ID8252246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18143362..18147293hg38UCSC Ensembl
Innerchr22:18626129..18630060hg19UCSC Ensembl
Innerchr22:17006129..17010060hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383932
hg193932
hg183932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5158256, essv5106020, essv5040048, essv5090485, essv5154519, essv5123826, essv5097315, essv5157733, essv5021661, essv5105951, essv5041108, essv5022968, essv5125541, essv5006579, essv5004375, essv5078473, essv5034641, essv5043250, essv5064706, essv5090041, essv5109989, essv5082172, essv5066240, essv5015829, essv5097474, essv5110417, essv5113886, essv5132493, essv5137112, essv5029548, essv5054625, essv5048933, essv5120414, essv5147721, essv5117260, essv5013470, essv5125151, essv5125346, essv5070544
SamplesNA12739, NA20877, NA12843, NA20805, NA12832, NA12400, NA20846, NA12812, NA20589, NA20890, NA20586, NA20336, NA12275, NA12044, NA11994, NA20884, NA21105, NA20755, NA20335, NA12760, NA12752, NA21118, NA20876, NA19118, NA12386, NA10830, NA12827, NA19718, NA21117, NA12057, NA19174, NA10861, NA20797, NA21094, NA06986, NA12749, NA20334, NA12890, NA12154
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)esv2421798
Frequency
Sample Size1184
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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