A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422163



Internal ID8252611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158547046..158551602hg38UCSC Ensembl
Innerchr1:158516836..158521392hg19UCSC Ensembl
Innerchr1:156783460..156788016hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg384557
hg194557
hg184557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5051342, essv5018855, essv5008463, essv5160461, essv5032694, essv5040528, essv5143700, essv5070805, essv5072203, essv5049654, essv5158882, essv5158063, essv5114303, essv5005794, essv5086950, essv5159882, essv5075946, essv5143434, essv5095377, essv5133813, essv5008493, essv5058576, essv5128956, essv5065861, essv5058259, essv5117946, essv5085056, essv5062201, essv5077180, essv5125285, essv5041622, essv5080721, essv5097070, essv5040632
SamplesNA19397, NA19399, NA19350, NA19393, NA21738, NA19443, NA19098, NA18870, NA21522, NA21739, NA19374, NA21405, NA19201, NA21370, NA21402, NA19207, NA19385, NA19317, NA19036, NA19103, NA19097, NA19208, NA19202, NA21339, NA19469, NA19095, NA19035, NA21719, NA19473, NA19470, NA19324, NA19360, NA19102, NA19429
Known GenesOR6Y1
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)esv2422163
Frequency
Sample Size1184
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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