Variant Details

Variant: esv3620571

Internal ID

7007441

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr9:70146869..70148966	hg38	UCSC Ensembl
Inner	chr9:70146879..70148956	hg38	UCSC Ensembl
Outer	chr9:70146859..70148976	hg38	UCSC Ensembl
	chr9:72761785..72763882	hg19	UCSC Ensembl
Inner	chr9:72761795..72763872	hg19	UCSC Ensembl
Outer	chr9:72761775..72763892	hg19	UCSC Ensembl

Cytoband

9q21.12

Allele length

Assembly	Allele length
hg38	2098
hg19	2098

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv13511659, essv13511640, essv13511604, essv13511699, essv13511785, essv13511769, essv13511662, essv13511821, essv13511678, essv13511682, essv13511789, essv13511763, essv13511756, essv13511774, essv13511713, essv13511710, essv13511651, essv13511645, essv13511643, essv13511829, essv13511817, essv13511688, essv13511834, essv13511771, essv13511704, essv13511755, essv13511849, essv13511729, essv13511871, essv13511886, essv13511860, essv13511798, essv13511801, essv13511825, essv13511892, essv13511580, essv13511591, essv13511644, essv13511633, essv13511707, essv13511702, essv13511848, essv13511790, essv13511793, essv13511787, essv13511624, essv13511614, essv13511726, essv13511601, essv13511866, essv13511875, essv13511743, essv13511882, essv13511753, essv13511687, essv13511655, essv13511819, essv13511752, essv13511599, essv13511823, essv13511579, essv13511840, essv13511657, essv13511885, essv13511828, essv13511677, essv13511877, essv13511744, essv13511851, essv13511748, essv13511612, essv13511695, essv13511646, essv13511674, essv13511859, essv13511750, essv13511784, essv13511669, essv13511852, essv13511731, essv13511631, essv13511768, essv13511658, essv13511616, essv13511843, essv13511890, essv13511806, essv13511832, essv13511587, essv13511593, essv13511802, essv13511581, essv13511664, essv13511661, essv13511884, essv13511609, essv13511873, essv13511799, essv13511594, essv13511874, essv13511620, essv13511847, essv13511837, essv13511791, essv13511792, essv13511776, essv13511686, essv13511694, essv13511824, essv13511818, essv13511803, essv13511855, essv13511648, essv13511641, essv13511711, essv13511656, essv13511879, essv13511672, essv13511608, essv13511734, essv13511683, essv13511857, essv13511649, essv13511833, essv13511676, essv13511708, essv13511808, essv13511800, essv13511619, essv13511867, essv13511788, essv13511797, essv13511590, essv13511759, essv13511634, essv13511887, essv13511815, essv13511812, essv13511740, essv13511703, essv13511738, essv13511732, essv13511725, essv13511853, essv13511663, essv13511637, essv13511807, essv13511842, essv13511582, essv13511876, essv13511831, essv13511889, essv13511864, essv13511735, essv13511845, essv13511722, essv13511862, essv13511770, essv13511615, essv13511575, essv13511780, essv13511883, essv13511666, essv13511589, essv13511878, essv13511583, essv13511665, essv13511654, essv13511647, essv13511888, essv13511618, essv13511720, essv13511854, essv13511827, essv13511758, essv13511754, essv13511766, essv13511772, essv13511636, essv13511794, essv13511830, essv13511777, essv13511865, essv13511578, essv13511863, essv13511764, essv13511714, essv13511733, essv13511850, essv13511622, essv13511610, essv13511705, essv13511721, essv13511606, essv13511630, essv13511779, essv13511585, essv13511684, essv13511894, essv13511870, essv13511689, essv13511813, essv13511783, essv13511781, essv13511667, essv13511597, essv13511577, essv13511701, essv13511670, essv13511739, essv13511724, essv13511697, essv13511621, essv13511595, essv13511881, essv13511820, essv13511627, essv13511639, essv13511856, essv13511680, essv13511762, essv13511741, essv13511719, essv13511804, essv13511893, essv13511693, essv13511576, essv13511749, essv13511660, essv13511742, essv13511761, essv13511607, essv13511712, essv13511811, essv13511716, essv13511846, essv13511650, essv13511839, essv13511635, essv13511718, essv13511673, essv13511617, essv13511679, essv13511588, essv13511841, essv13511600, essv13511773, essv13511775, essv13511602, essv13511786, essv13511868, essv13511872, essv13511613, essv13511814, essv13511692, essv13511717, essv13511782, essv13511698, essv13511623, essv13511671, essv13511723, essv13511584, essv13511626, essv13511861, essv13511652, essv13511795, essv13511642, essv13511611, essv13511603, essv13511728, essv13511605, essv13511690, essv13511691, essv13511638, essv13511709, essv13511625, essv13511796, essv13511681, essv13511586, essv13511737, essv13511826, essv13511751, essv13511838, essv13511757, essv13511715, essv13511844, essv13511810, essv13511809, essv13511706, essv13511816, essv13511700, essv13511727, essv13511736, essv13511596, essv13511805, essv13511685, essv13511746, essv13511598, essv13511869, essv13511765, essv13511891, essv13511858, essv13511668, essv13511592, essv13511696, essv13511675, essv13511760, essv13511632, essv13511629, essv13511747, essv13511628, essv13511880, essv13511653, essv13511835, essv13511778, essv13511745, essv13511836, essv13511767, essv13511822, essv13511730

Samples

HG04210, HG00189, HG02481, HG03228, HG00142, NA18947, HG01624, HG00384, NA19066, HG03052, HG01885, NA12414, HG04158, HG03753, HG03241, NA20752, HG02836, HG00244, NA18639, HG03298, NA19355, NA19684, HG03193, HG02589, HG02154, HG03372, NA19920, HG03679, NA12750, HG03478, HG04059, HG03572, HG00641, HG03603, HG03436, HG03770, HG00589, HG03385, HG03943, HG03452, HG01351, NA21130, HG02595, NA20911, NA18547, NA18960, HG03604, NA19457, HG03224, HG00185, HG00537, HG02562, NA12275, HG03817, HG03910, HG02252, HG02634, HG02187, HG03045, HG03691, HG01973, HG03380, NA18557, HG02545, NA18985, HG01058, HG03073, HG02477, HG01550, HG00365, HG01256, HG01565, HG00137, NA12760, NA12489, NA19091, NA19056, NA19403, HG03907, HG03990, HG00101, NA19455, NA20862, HG00344, NA20875, NA18871, HG01149, HG02878, HG01889, HG00692, NA20901, HG02577, HG02445, NA11893, NA11840, HG03802, NA19750, NA20856, NA06989, HG03953, HG03451, NA19009, NA18523, NA19318, HG04176, NA19395, HG01572, NA19625, NA18858, HG03694, HG01075, HG04200, HG03064, HG03238, HG02330, NA20799, NA19309, NA18533, HG00336, HG04006, HG03437, NA21144, HG00580, HG02721, HG03920, HG03117, NA19090, NA12873, NA20527, HG03702, HG02232, HG02941, HG02274, HG02580, HG02137, HG04080, HG01785, NA20897, HG00513, HG00381, HG01912, HG03977, NA19779, NA19351, HG03063, NA19102, HG00112, NA11843, HG03872, HG01468, HG03401, HG02774, HG00595, HG01920, NA19011, NA19312, HG00171, NA12006, HG03439, NA19346, NA21091, HG03864, HG01060, NA19648, NA19700, HG01795, NA20853, HG03652, NA19397, NA11829, HG02298, HG03821, HG01052, NA20899, HG00100, HG02318, HG01280, HG03589, NA18917, HG01305, NA19393, NA19777, NA19057, HG04018, HG02271, HG00179, NA19669, NA18870, HG03944, HG01694, HG03199, HG03095, NA18967, HG03235, HG01571, HG01341, HG00127, HG02312, NA18944, HG03086, HG01682, HG03705, HG03135, HG02810, HG03757, HG03490, HG01997, NA19198, HG04144, HG00330, HG01945, HG00736, HG02854, HG01848, NA19782, HG02111, HG02281, NA19922, HG03868, HG03209, HG01398, HG03986, HG02573, HG01170, HG00262, NA19137, HG02461, HG02885, HG01369, HG01046, HG01892, NA20845, HG03225, HG00637, NA21114, HG02715, HG00739, HG01942, HG02009, HG02737, HG01136, HG04107, HG03291, NA19327, HG01938, HG00475, HG03636, HG01088, HG02450, HG00320, HG00598, NA20767, NA21116, HG02789, HG02555, HG03742, HG03085, HG00273, NA19774, HG03824, HG01197, HG03397, HG03078, NA18946, HG01182, HG01791, HG01921, HG00157, HG02292, NA19338, NA20828, HG03755, HG03991, HG03774, NA19035, HG03567, HG01992, HG02613, HG03833, HG03028, HG04219, HG02282, HG04134, HG03809, HG01190, HG01954, HG02799, HG00742, HG02696, HG03838, HG03899, NA19037, HG02651, HG01598, HG00631, HG03488, HG01933, HG01108, NA12874, NA19078, HG00672, HG01432, HG03442, NA20868, HG03049, NA20334, HG03615, HG03410, HG02186, HG03162, HG01617, NA18505, HG01775, NA19146, HG03376, HG03072, HG02808, HG01097, HG01583, HG00362

Known Genes

MAMDC2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3620571

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	320
Observed Complex	0
Frequency	n/a