A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2422005

Internal ID7905767
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233740062..233749977hg38UCSC Ensembl
Innerchr2:234648708..234658623hg19UCSC Ensembl
Innerchr2:234313447..234323362hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5030576, essv5099013, essv5053975, essv5124226, essv5115808, essv5058999, essv5145405, essv5058038, essv5033905, essv5112393, essv5064386, essv5070586, essv5082545, essv5079847, essv5128553, essv5133026, essv5114054, essv5070886, essv5027450, essv5055564, essv5024938, essv5030755, essv5059577, essv5119072, essv5116620, essv5051949, essv5030236, essv5092527, essv5097097, essv5034555, essv5022915, essv5007124, essv5132696, essv5096087, essv5109650
SamplesNA18863, NA18861, NA21438, NA21524, NA21478, NA21487, NA18517, NA19109, NA21825, NA21415, NA19383, NA18934, NA19107, NA19444, NA19096, NA21363, NA19908, NA18515, NA21525, NA19373, NA21717, NA19027, NA21379, NA21739, NA19708, NA21485, NA21418, NA19328, NA21336, NA21486, NA21439, NA19097, NA19446, NA21576, NA19448
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
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
Pubmed ID20811451
Accession Number(s)esv2422005
Sample Size1184
Observed Gain0
Observed Loss35
Observed Complex0

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