A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671466



Internal ID9590885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9213104..9213378hg38UCSC Ensembl
chr20:9193751..9194025hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6393686, essv5631687, essv5783651, essv5501194, essv6479071, essv6203948, essv5944365, essv6372587, essv5850325, essv6208334, essv5983375, essv6370288, essv5870828, essv6427931, essv6301790, essv5411228, essv6092089, essv6432586, essv6089847, essv5492924, essv5555370, essv6171934, essv5902237, essv6373247, essv5485212, essv6336269, essv6252615, essv5818695, essv6060874, essv5895047, essv5464428, essv5688615, essv6088987, essv6030787, essv5699167, essv5473475, essv5468174, essv5473832, essv5727377, essv6308022, essv6027882, essv6270376, essv6123714, essv5820199, essv5497406, essv5625615, essv5995744, essv6192200, essv5527367, essv5861766, essv5853298, essv5613082, essv5417947, essv5626842, essv5497110, essv5500814, essv5911494, essv5685844, essv6132460
SamplesNA19137, NA12043, NA18861, NA18520, NA19321, NA18874, NA19319, NA19317, NA12813, NA19334, NA18953, HG01488, NA18489, NA19144, NA19108, NA18488, NA19474, NA18873, NA19147, HG01171, HG00115, HG01107, NA19914, NA19239, NA19396, NA18856, NA19397, NA20127, NA18959, NA18916, NA19190, NA19213, NA19380, NA19372, NA19393, NA19384, NA18498, NA18522, NA19119, HG01170, NA18487, HG01080, NA19707, NA19131, NA19328, NA18910, NA19382, NA19376, NA19391, NA20332, NA18867, NA19116, NA19431, NA20287, NA19099, HG01390, NA19225, HG01125, NA18853
Known GenesPLCB4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671466
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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