A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2421444

Internal ID7905206
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:135123783..135126001hg38UCSC Ensembl
Innerchr3:134842625..134844843hg19UCSC Ensembl
Innerchr3:136325315..136327533hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5154181, essv5043574, essv5025025, essv5156454, essv5016652, essv5018449, essv5144818, essv5022383, essv5147323, essv5151315, essv5132091, essv5120292, essv5127902, essv5124537, essv5004913, essv5018315, essv5027130, essv5152133, essv5073579, essv5137734, essv5073538, essv5008019, essv5033348, essv5107253, essv5141992, essv5075298, essv5017908, essv5109083, essv5058953, essv5025195, essv5129311, essv5042721, essv5154553, essv5102378, essv5010226, essv5073562, essv5045246, essv5050617, essv5145245, essv5122031, essv5066109, essv5098788, essv5026894, essv5060753, essv5144168, essv5072173, essv5058392, essv5028320, essv5003345, essv5107959, essv5154710, essv5095962, essv5095016, essv5091234, essv5020788, essv5120156
SamplesNA19146, NA19127, NA19445, NA18861, NA19352, NA19904, NA21353, NA19222, NA18874, NA21307, NA19319, NA18516, NA19203, NA19150, NA19210, NA21295, NA21489, NA19151, NA19226, NA19428, NA19211, NA18934, NA19314, NA21686, NA19197, NA21301, NA21359, NA19256, NA19457, NA19324, NA19313, NA19377, NA18515, NA18875, NA21364, NA19221, NA20360, NA19258, NA21632, NA21344, NA21510, NA19394, NA19403, NA19431, NA19097, NA21620, NA21366, NA19916, NA19118, NA19095, NA19171, NA21719, NA18935, NA19381, NA21573, NA19439
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
Pubmed ID20811451
Accession Number(s)esv2421444
Sample Size1184
Observed Gain0
Observed Loss56
Observed Complex0

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