A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621452



Internal ID6661631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110067914..110068620hg38UCSC Ensembl
Innerchr9:110067915..110068620hg38UCSC Ensembl
Outerchr9:110067914..110068621hg38UCSC Ensembl
chr9:112830194..112830900hg19UCSC Ensembl
Innerchr9:112830195..112830900hg19UCSC Ensembl
Outerchr9:112830194..112830901hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13596657, essv13596719, essv13596756, essv13596761, essv13596760, essv13596733, essv13596700, essv13596720, essv13596787, essv13596767, essv13596775, essv13596798, essv13596725, essv13596815, essv13596697, essv13596766, essv13596722, essv13596796, essv13596690, essv13596788, essv13596656, essv13596772, essv13596831, essv13596702, essv13596783, essv13596800, essv13596718, essv13596763, essv13596694, essv13596833, essv13596753, essv13596749, essv13596717, essv13596810, essv13596745, essv13596826, essv13596765, essv13596837, essv13596764, essv13596773, essv13596750, essv13596710, essv13596699, essv13596814, essv13596806, essv13596709, essv13596819, essv13596726, essv13596780, essv13596828, essv13596658, essv13596676, essv13596786, essv13596782, essv13596792, essv13596677, essv13596755, essv13596790, essv13596711, essv13596851, essv13596824, essv13596662, essv13596654, essv13596716, essv13596789, essv13596734, essv13596739, essv13596776, essv13596797, essv13596822, essv13596737, essv13596768, essv13596852, essv13596721, essv13596706, essv13596744, essv13596832, essv13596813, essv13596668, essv13596703, essv13596674, essv13596759, essv13596691, essv13596771, essv13596748, essv13596728, essv13596687, essv13596769, essv13596779, essv13596799, essv13596740, essv13596825, essv13596823, essv13596850, essv13596839, essv13596731, essv13596835, essv13596713, essv13596846, essv13596778, essv13596801, essv13596693, essv13596655, essv13596675, essv13596754, essv13596834, essv13596672, essv13596659, essv13596847, essv13596670, essv13596804, essv13596683, essv13596838, essv13596741, essv13596729, essv13596849, essv13596742, essv13596809, essv13596667, essv13596743, essv13596714, essv13596818, essv13596812, essv13596732, essv13596727, essv13596811, essv13596827, essv13596723, essv13596708, essv13596688, essv13596685, essv13596853, essv13596757, essv13596724, essv13596840, essv13596807, essv13596842, essv13596844, essv13596707, essv13596712, essv13596821, essv13596681, essv13596684, essv13596791, essv13596781, essv13596695, essv13596803, essv13596802, essv13596841, essv13596666, essv13596762, essv13596843, essv13596680, essv13596689, essv13596738, essv13596785, essv13596698, essv13596678, essv13596705, essv13596829, essv13596673, essv13596848, essv13596805, essv13596747, essv13596758, essv13596794, essv13596715, essv13596820, essv13596836, essv13596746, essv13596795, essv13596701, essv13596679, essv13596735, essv13596777, essv13596845, essv13596696, essv13596682, essv13596774, essv13596808, essv13596660, essv13596686, essv13596730, essv13596816, essv13596661, essv13596830, essv13596669, essv13596752, essv13596751, essv13596784, essv13596692, essv13596664, essv13596770, essv13596793, essv13596671, essv13596817, essv13596663, essv13596665, essv13596704, essv13596736
SamplesHG03163, HG03370, HG03135, NA19312, HG02854, HG03121, NA19152, NA19625, HG03120, HG01440, NA19214, NA20514, HG01241, HG03279, HG02621, HG03064, HG03382, NA20809, HG01250, HG01896, NA19819, NA18933, HG01988, NA18523, NA19437, HG03342, HG02816, HG03478, HG02983, NA19401, HG03129, HG02896, NA19149, HG02255, NA19023, HG03247, NA19455, HG02006, NA20294, HG03301, NA19319, NA19670, NA20759, HG02974, NA19923, HG01956, HG03046, NA19451, HG02722, HG02885, HG03124, NA19338, HG01200, HG03111, NA19019, HG00739, NA19461, HG03432, HG03458, HG03099, NA18507, NA19378, HG02323, HG03380, NA19355, HG02433, HG02583, HG03039, HG02805, HG01171, HG02973, HG01468, HG02308, HG02870, HG02836, HG02588, NA19463, NA20761, HG03088, NA19982, NA18508, NA19239, HG03193, HG03575, NA19323, HG03054, HG02646, NA19309, HG00638, HG02716, HG01402, NA19900, NA19107, HG03578, HG01694, HG02012, NA20801, NA19440, HG03583, HG01360, HG03100, HG03539, HG03565, HG02595, NA19700, HG03114, NA19042, NA19316, NA19190, HG02236, NA19247, HG02814, HG02840, HG01437, HG03126, HG02325, NA19129, HG02449, HG02537, NA19372, HG02054, NA19374, NA19703, HG03397, NA20126, NA19024, NA20348, HG02562, NA19206, NA19102, NA19119, HG02439, HG02573, HG02971, NA19175, HG01889, HG02111, HG03096, HG03366, HG03518, HG02511, HG02771, NA18878, HG03069, HG02545, NA18910, NA19307, HG03115, NA19141, HG01880, HG02339, HG03175, HG03028, HG03108, HG02947, HG03224, HG01063, HG01162, HG03446, HG01190, NA18907, HG02635, NA19035, HG03499, HG03045, NA20287, HG03078, NA19446, NA18879, HG03123, NA19452, HG01783, HG02837, NA19041, NA19225, HG02702, NA18917, NA19655, HG02464, HG03025, HG03258, HG03369, HG03139, HG02476, HG03270, HG02721, HG02445, HG01498, HG03271, HG01374, HG02620, HG03515, HG02051, HG03517, HG02505, NA19448, NA19092, HG02769, HG02610, HG03082
Known GenesAKAP2, PALM2-AKAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621452
Frequency
Sample Size2504
Observed Gain0
Observed Loss200
Observed Complex0
Frequencyn/a


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