A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646371



Internal ID6686429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10419713..10422484hg38UCSC Ensembl
Innerchr21:10419839..10422434hg38UCSC Ensembl
Outerchr21:10419656..10422541hg38UCSC Ensembl
chr21:11089973..11092744hg19UCSC Ensembl
Innerchr21:11090023..11092618hg19UCSC Ensembl
Outerchr21:11089916..11092801hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg382772
hg192772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16247756, essv16247837, essv16247764, essv16247734, essv16247761, essv16247759, essv16247826, essv16247800, essv16247820, essv16247746, essv16247752, essv16247712, essv16247803, essv16247740, essv16247831, essv16247742, essv16247723, essv16247796, essv16247762, essv16247824, essv16247715, essv16247729, essv16247771, essv16247754, essv16247743, essv16247782, essv16247763, essv16247768, essv16247808, essv16247807, essv16247774, essv16247781, essv16247821, essv16247817, essv16247797, essv16247812, essv16247709, essv16247747, essv16247801, essv16247794, essv16247786, essv16247841, essv16247847, essv16247717, essv16247735, essv16247722, essv16247791, essv16247767, essv16247785, essv16247713, essv16247828, essv16247731, essv16247795, essv16247842, essv16247725, essv16247766, essv16247788, essv16247839, essv16247778, essv16247844, essv16247798, essv16247806, essv16247830, essv16247720, essv16247776, essv16247748, essv16247745, essv16247750, essv16247822, essv16247710, essv16247829, essv16247779, essv16247818, essv16247730, essv16247790, essv16247792, essv16247784, essv16247772, essv16247718, essv16247744, essv16247760, essv16247799, essv16247733, essv16247843, essv16247755, essv16247805, essv16247846, essv16247783, essv16247845, essv16247736, essv16247773, essv16247726, essv16247753, essv16247819, essv16247836, essv16247770, essv16247804, essv16247737, essv16247751, essv16247835, essv16247838, essv16247749, essv16247719, essv16247777, essv16247738, essv16247813, essv16247721, essv16247775, essv16247769, essv16247714, essv16247810, essv16247825, essv16247823, essv16247728, essv16247758, essv16247765, essv16247802, essv16247834, essv16247809, essv16247789, essv16247793, essv16247716, essv16247814, essv16247711, essv16247833, essv16247832, essv16247727, essv16247811, essv16247848, essv16247827, essv16247741, essv16247739, essv16247780, essv16247787, essv16247724, essv16247757, essv16247816, essv16247840, essv16247815, essv16247732
SamplesHG01864, HG00613, NA19012, HG03968, HG00309, HG01813, NA12249, NA19436, HG01440, NA20514, HG00257, HG01675, NA19904, NA18951, NA20522, HG01700, HG01353, HG00500, HG00186, HG00131, HG01105, NA19072, NA12340, NA18948, HG00657, HG02260, NA12828, HG01685, HG00326, HG02652, HG00553, HG00139, NA21135, NA20588, HG01708, HG00187, HG02817, NA19678, HG00331, HG00113, NA18628, NA18949, NA18868, HG01133, NA18632, HG00342, HG00266, HG00154, HG00339, HG01982, HG00593, NA12282, HG00140, NA12155, HG00259, HG01402, HG01623, NA19471, HG00231, HG00372, HG01694, HG02012, HG00315, NA07048, NA19429, NA20541, HG00150, HG01556, NA11843, NA12400, HG01707, HG03604, NA19658, HG00243, HG00276, HG00284, NA19457, HG02239, NA12046, HG00360, HG00268, HG00640, NA20767, HG00325, HG00383, HG00560, HG02807, HG03619, HG01069, HG01676, HG01923, NA18961, HG03157, HG00105, HG00246, HG01767, NA12283, HG01512, HG01921, HG01933, HG02570, HG00151, HG01779, HG01094, HG01809, NA19669, NA20534, NA19078, HG00611, HG01801, NA19764, HG00138, HG00362, NA20274, HG01112, HG00118, NA18544, NA18602, NA19649, HG01485, HG01804, HG00281, HG00238, NA12546, NA12842, HG01947, HG01108, HG00623, NA18611, HG00566, HG01177, HG00324, HG00625, HG00690, HG01892, HG01781, HG00336, HG00345, HG02064, HG00271
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646371
Frequency
Sample Size2504
Observed Gain0
Observed Loss140
Observed Complex0
Frequencyn/a


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