A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421756



Internal ID7905518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:159090559..159094016hg38UCSC Ensembl
Innerchr3:158808348..158811805hg19UCSC Ensembl
Innerchr3:160291042..160294499hg18UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg383458
hg193458
hg183458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5057299, essv5062306, essv5102570, essv5067592, essv5103093, essv5075963, essv5074794, essv5051240, essv5035868, essv5159934, essv5042468, essv5159267, essv5053304, essv5033089, essv5020895, essv5152660, essv5034776, essv5135129, essv5099445, essv5098848, essv5153338, essv5038060, essv5048218, essv5106875, essv5155575, essv5050995, essv5052227, essv5110700, essv5129689, essv5025970, essv5138015, essv5147426, essv5047411, essv5059289, essv5098669, essv5085496, essv5064986, essv5121039, essv5097808, essv5032382, essv5143807
SamplesNA19222, NA19794, NA19203, NA18855, NA20294, NA21408, NA19192, NA19307, NA19131, NA21447, NA20343, NA20342, NA21417, NA19714, NA21415, NA18515, NA19184, NA21439, NA19097, NA19221, NA19031, NA18857, NA19452, NA19225, NA19132, NA21608, NA19094, NA20295, NA18517, NA19434, NA21576, NA19328, NA21379, NA19438, NA19093, NA21614, NA19096, NA19116, NA21363, NA19224, NA19046
Known GenesIQCJ, IQCJ-SCHIP1
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)esv2421756
Frequency
Sample Size1184
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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