A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421533



Internal ID8251981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17723282..17724628hg38UCSC Ensembl
Innerchr8:17580791..17582137hg19UCSC Ensembl
Innerchr8:17625071..17626417hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381347
hg191347
hg181347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5152092, essv5086420, essv5101504, essv5140453, essv5089444, essv5108872, essv5010161, essv5061554, essv5007219, essv5092579, essv5004868, essv5063045, essv5147432, essv5074256, essv5017358, essv5124705, essv5080359, essv5063745, essv5074975, essv5064320, essv5130895
SamplesNA11995, NA20805, NA12146, NA19669, NA20806, NA20796, NA12348, NA19782, NA21682, NA21116, NA07045, NA20581, NA20538, NA12056, NA19718, NA06997, NA12775, NA21768, NA19716, NA12875, NA07000
Known GenesMTUS1
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)esv2421533
Frequency
Sample Size1184
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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