A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678745



Internal ID9944850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35233086..35233672hg38UCSC Ensembl
chr14:35702292..35702878hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6033975, essv6212240, essv6518214, essv5702067, essv6263576, essv6339997, essv5486669, essv6112096, essv6370794, essv6353374, essv6270198, essv6553425, essv6363524, essv6527489, essv5951299, essv5480257, essv5438006, essv5898832, essv5546368, essv5767165, essv5582467, essv5884408, essv5793221, essv6553952, essv6113532, essv5825788, essv5502569, essv5695400, essv5832678, essv5804067, essv5763975, essv6568137, essv6499737, essv6313865, essv6421655, essv5775195, essv5723015, essv5965276, essv5910241, essv6389031, essv5990822, essv5815630, essv6452390, essv5741777, essv5891010, essv5983284, essv6372540, essv6455416, essv6466852, essv5587162, essv6483883, essv6331317, essv5553840, essv5414889, essv6558959, essv6289043, essv6508025, essv5639314, essv5622435, essv5481485, essv5555192, essv5441235, essv6475063, essv6152004, essv6243727
SamplesNA12842, HG01462, NA19909, HG00187, HG00151, NA19350, NA19819, NA19777, HG01456, NA19377, HG01461, NA19920, NA12155, HG00271, NA07346, HG00330, HG01492, HG00334, NA20513, HG01134, NA19720, HG01072, NA19238, HG01176, HG01440, NA19722, NA19445, NA12748, HG01124, HG01353, HG00313, HG01136, NA12489, NA19657, NA19437, HG01171, NA19717, NA19788, NA12718, NA18907, HG00284, NA11919, NA19774, NA11893, NA12249, HG01383, NA19453, NA19682, NA20828, HG00265, HG00638, NA19240, HG00278, NA20544, NA19818, NA19759, NA19785, HG00329, HG00174, NA19770, HG00343, NA19661, HG01125, NA12154, HG01061
Known GenesKIAA0391
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678745
Frequency
Sample Size1151
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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