A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661698



Internal ID9927803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39291894..39292501hg38UCSC Ensembl
chr17:37448147..37448754hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6513805, essv5569343, essv5554820, essv6170240, essv5595698, essv6582686, essv6464874, essv6464799, essv5815742, essv6434228, essv6250931, essv6152005, essv6055785, essv6401191, essv5981987, essv6172397, essv6160672, essv5793057, essv5716410, essv6499391, essv6070248, essv6472382, essv6524848, essv5862623, essv6570175, essv6368243, essv5979299, essv5902909, essv6575973, essv5737000, essv6315614, essv6255491, essv6186714, essv5474032, essv6353539, essv5582918, essv6074822, essv5938009, essv5536251, essv6234023, essv6139243, essv6194456, essv6113512, essv6593879, essv6150872, essv5554388, essv5693459, essv5642621, essv6286363, essv6171123, essv5725669
SamplesNA19399, NA19914, NA18507, NA20752, NA20802, NA19819, NA18504, NA19443, NA07357, NA12341, NA19171, NA19379, NA18916, NA20540, NA19384, NA19404, NA19383, NA18874, NA19372, NA19238, NA12044, NA19385, HG01048, HG00178, NA19210, NA18910, NA18871, NA19461, NA19114, HG00373, NA19099, NA19338, NA19452, NA19225, NA19395, NA18858, NA19440, NA19390, NA19147, NA18517, NA19240, NA19334, NA19470, NA20797, HG01342, NA19398, NA19328, HG01491, NA18505, NA19429, NA19346
Known GenesFBXL20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661698
Frequency
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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