A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645966



Internal ID6686026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47150463..47160058hg38UCSC Ensembl
Innerchr20:47150463..47160058hg38UCSC Ensembl
Outerchr20:47150463..47160058hg38UCSC Ensembl
chr20:45779102..45788697hg19UCSC Ensembl
Innerchr20:45779102..45788697hg19UCSC Ensembl
Outerchr20:45779102..45788697hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg389596
hg199596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16196886, essv16196884, essv16196950, essv16196916, essv16196890, essv16196892, essv16196920, essv16196868, essv16196903, essv16196935, essv16196912, essv16196864, essv16196919, essv16196872, essv16196863, essv16196877, essv16196958, essv16196914, essv16196939, essv16196954, essv16196865, essv16196871, essv16196858, essv16196936, essv16196906, essv16196926, essv16196952, essv16196921, essv16196870, essv16196883, essv16196902, essv16196873, essv16196930, essv16196918, essv16196907, essv16196887, essv16196913, essv16196947, essv16196946, essv16196869, essv16196957, essv16196880, essv16196961, essv16196922, essv16196879, essv16196891, essv16196948, essv16196874, essv16196896, essv16196927, essv16196867, essv16196899, essv16196934, essv16196929, essv16196938, essv16196897, essv16196953, essv16196960, essv16196904, essv16196956, essv16196917, essv16196911, essv16196878, essv16196910, essv16196933, essv16196928, essv16196889, essv16196959, essv16196940, essv16196909, essv16196937, essv16196882, essv16196861, essv16196898, essv16196944, essv16196915, essv16196862, essv16196931, essv16196905, essv16196941, essv16196955, essv16196949, essv16196893, essv16196888, essv16196942, essv16196860, essv16196901, essv16196943, essv16196885, essv16196951, essv16196908, essv16196895, essv16196875, essv16196923, essv16196881, essv16196932, essv16196925, essv16196945, essv16196924, essv16196894, essv16196866, essv16196859, essv16196876, essv16196900
SamplesHG00403, HG04212, HG00881, HG00542, HG02250, NA21111, NA19066, HG00524, HG04229, HG01815, HG04202, HG02122, HG00729, HG00341, HG02384, HG00654, HG01809, HG00327, HG02407, HG01853, HG02140, HG02087, HG00689, NA18619, NA18993, HG03736, HG02374, HG00590, HG03803, HG03817, HG03910, HG02082, HG04238, NA18990, HG02073, NA18985, HG01851, NA18648, HG00464, HG02047, HG03780, HG03908, HG02136, HG01841, HG03685, HG00982, NA19006, HG04062, HG04039, HG02142, HG00657, HG04107, HG00475, HG03636, HG01810, NA18637, HG02522, HG01796, HG00708, HG02789, NA20867, HG00651, NA19000, HG00956, HG00690, HG03858, HG03713, HG02604, HG02121, NA20856, HG00613, HG01842, HG02184, HG03752, NA18536, HG00410, NA18945, HG03653, HG01812, NA18542, HG04216, NA18628, HG01800, HG02391, NA18643, HG03973, HG01862, HG01801, HG04080, HG00446, HG01868, NA18987, HG00656, HG02396, HG02116, NA18636, HG03684, NA19011, HG04161, HG03890, HG01869, NA18740, NA18622, HG01583
Known GenesEYA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645966
Frequency
Sample Size2504
Observed Gain0
Observed Loss104
Observed Complex0
Frequencyn/a


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