A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422005



Internal ID1219435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233740062..233749977hg38UCSC Ensembl
Innerchr2:234648708..234658623hg19UCSC Ensembl
Innerchr2:234313447..234323362hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg389916
hg199916
hg189916
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, essv5128553, essv5079847, 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
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2422005
Frequency
Sample Size1184
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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