A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671262



Internal ID9937367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39323889..39324414hg38UCSC Ensembl
chr17:37480142..37480667hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5689253, essv6054232, essv6136004, essv6572836, essv6195744, essv6553377, essv6023993, essv6109380, essv6405763, essv6504949, essv5512911, essv5525987, essv5413142, essv5889416, essv5963551, essv6112946, essv6186190, essv5581251, essv5873913, essv6433891, essv5970075, essv5661262, essv6187359, essv6415290, essv5432806, essv5954630, essv5521747, essv6106619, essv5844775, essv6598160, essv6509548, essv6486156, essv6490070, essv6423154, essv6234541, essv5563869, essv6479523, essv6073119, essv5611746, essv5638316, essv6536176, essv5919174, essv6058354, essv5596159, essv5827090, essv6253199, essv5923384, essv6585265, essv6463351, essv5686520, essv6420784, essv6293895, essv5509630, essv6507626, essv6496614, essv5824598, essv6122945, essv5715678, essv6187173, essv6045681, essv6262962, essv5401599, essv5621016, essv5832388
SamplesNA19701, NA19700, NA18508, NA19704, NA19359, NA18486, NA20294, NA19355, NA19819, NA20332, NA19377, HG01461, NA19443, NA19920, NA18510, NA19374, NA19382, NA19198, NA19916, NA19457, NA19313, NA19138, NA20336, NA19384, NA20291, NA19130, NA20278, NA19383, NA19917, NA19235, NA19317, NA19901, NA18520, NA20127, NA19921, NA19707, NA19347, NA19455, NA18516, NA19982, NA20126, NA18910, NA19449, HG01101, NA20282, NA19469, NA20296, HG01148, NA19401, NA19834, NA19256, NA19434, NA19435, NA19835, NA19334, NA19360, NA19818, NA19376, NA19472, NA19713, NA20289, NA19102, NA19316, NA19429
Known GenesFBXL20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671262
Frequency
Sample Size1151
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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