A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421444



Internal ID7905206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:135123783..135126001hg38UCSC Ensembl
Innerchr3:134842625..134844843hg19UCSC Ensembl
Innerchr3:136325315..136327533hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg382219
hg192219
hg182219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5066109, essv5017908, essv5026894, essv5073538, essv5141992, essv5132091, essv5144168, essv5091234, essv5045246, essv5102378, essv5147323, essv5072173, essv5008019, essv5129311, essv5124537, essv5003345, essv5107253, essv5107959, essv5122031, essv5154181, essv5018449, essv5152133, essv5120156, essv5060753, essv5154710, essv5022383, essv5042721, essv5120292, essv5025025, essv5127902, essv5058953, essv5010226, essv5016652, essv5020788, essv5109083, essv5033348, essv5098788, essv5073579, essv5050617, essv5027130, essv5154553, essv5073562, essv5151315, essv5156454, essv5095962, essv5018315, essv5058392, essv5095016, essv5137734, essv5028320, essv5025195, essv5075298, essv5144818, essv5043574, essv5145245, essv5004913
SamplesNA19394, NA19258, NA19222, NA21686, NA19203, NA21620, NA18861, NA18935, NA21489, NA19377, NA21301, NA19314, NA19127, NA19381, NA19171, NA19319, NA21359, NA19916, NA19352, NA19197, NA19457, NA19313, NA21353, NA19904, NA21510, NA18874, NA21632, NA19226, NA19445, NA21344, NA20360, NA21307, NA19210, NA18934, NA19403, NA18515, NA18516, NA19097, NA21366, NA19221, NA19118, NA19150, NA18875, NA19151, NA21295, NA19095, NA21573, NA21719, NA19256, NA19439, NA19428, NA19324, NA21364, NA19211, NA19146, NA19431
Known GenesEPHB1
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)esv2421444
Frequency
Sample Size1184
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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