A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618341



Internal ID7005223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108058445..108063944hg38UCSC Ensembl
Innerchr8:108058945..108063444hg38UCSC Ensembl
Outerchr8:108057445..108064944hg38UCSC Ensembl
chr8:109070673..109076172hg19UCSC Ensembl
Innerchr8:109071173..109075672hg19UCSC Ensembl
Outerchr8:109069673..109077172hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13279894, essv13279937, essv13279925, essv13279930, essv13279916, essv13279889, essv13279934, essv13279896, essv13279887, essv13279917, essv13279890, essv13279920, essv13279931, essv13279901, essv13279938, essv13279936, essv13279935, essv13279923, essv13279905, essv13279910, essv13279907, essv13279898, essv13279891, essv13279918, essv13279919, essv13279915, essv13279921, essv13279904, essv13279900, essv13279927, essv13279914, essv13279897, essv13279911, essv13279899, essv13279933, essv13279908, essv13279909, essv13279912, essv13279895, essv13279932, essv13279926, essv13279903, essv13279922, essv13279892, essv13279906, essv13279902, essv13279913, essv13279929, essv13279888, essv13279928, essv13279886, essv13279893, essv13279924
SamplesHG02574, NA19700, NA18861, NA20274, HG02433, HG03247, NA18877, HG03478, NA19379, HG03168, HG02810, HG02595, HG03342, HG02281, NA19372, HG02420, NA19036, HG02571, HG02479, HG03054, NA18933, HG03291, HG01882, HG03457, HG02953, HG03294, HG03301, NA19461, NA19118, HG03476, HG03397, HG01241, HG02283, HG02722, HG03064, HG02255, NA18953, HG01148, NA19375, NA19309, HG02282, NA19473, NA19331, NA19323, NA19248, HG03112, NA19474, HG03401, HG02947, HG02851, NA18522, HG02808, NA19214
Known GenesRSPO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618341
Frequency
Sample Size2504
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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