Variant Details

Variant: esv3621452

Internal ID

6661631

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr9:110067914..110068620	hg38	UCSC Ensembl
Inner	chr9:110067915..110068620	hg38	UCSC Ensembl
Outer	chr9:110067914..110068621	hg38	UCSC Ensembl
	chr9:112830194..112830900	hg19	UCSC Ensembl
Inner	chr9:112830195..112830900	hg19	UCSC Ensembl
Outer	chr9:112830194..112830901	hg19	UCSC Ensembl

Cytoband

9q31.3

Allele length

Assembly	Allele length
hg38	707
hg19	707

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv13596761, essv13596723, essv13596745, essv13596655, essv13596717, essv13596676, essv13596673, essv13596695, essv13596787, essv13596683, essv13596689, essv13596767, essv13596679, essv13596773, essv13596720, essv13596722, essv13596760, essv13596811, essv13596850, essv13596663, essv13596818, essv13596765, essv13596845, essv13596668, essv13596702, essv13596853, essv13596782, essv13596654, essv13596669, essv13596775, essv13596727, essv13596699, essv13596777, essv13596730, essv13596756, essv13596783, essv13596786, essv13596698, essv13596799, essv13596686, essv13596738, essv13596674, essv13596719, essv13596757, essv13596706, essv13596672, essv13596662, essv13596715, essv13596704, essv13596755, essv13596810, essv13596830, essv13596753, essv13596747, essv13596843, essv13596815, essv13596774, essv13596835, essv13596728, essv13596693, essv13596827, essv13596792, essv13596838, essv13596780, essv13596746, essv13596826, essv13596785, essv13596696, essv13596842, essv13596840, essv13596744, essv13596806, essv13596708, essv13596685, essv13596824, essv13596804, essv13596665, essv13596725, essv13596751, essv13596657, essv13596764, essv13596712, essv13596681, essv13596846, essv13596709, essv13596688, essv13596666, essv13596670, essv13596678, essv13596680, essv13596660, essv13596737, essv13596658, essv13596807, essv13596809, essv13596677, essv13596812, essv13596790, essv13596691, essv13596716, essv13596671, essv13596837, essv13596820, essv13596831, essv13596762, essv13596731, essv13596803, essv13596713, essv13596735, essv13596694, essv13596700, essv13596823, essv13596721, essv13596851, essv13596816, essv13596703, essv13596705, essv13596795, essv13596743, essv13596740, essv13596741, essv13596770, essv13596701, essv13596793, essv13596684, essv13596758, essv13596834, essv13596825, essv13596707, essv13596821, essv13596836, essv13596794, essv13596781, essv13596724, essv13596833, essv13596800, essv13596808, essv13596848, essv13596779, essv13596726, essv13596739, essv13596802, essv13596784, essv13596759, essv13596847, essv13596734, essv13596692, essv13596829, essv13596772, essv13596736, essv13596690, essv13596813, essv13596752, essv13596788, essv13596682, essv13596822, essv13596664, essv13596661, essv13596819, essv13596733, essv13596675, essv13596667, essv13596697, essv13596832, essv13596791, essv13596844, essv13596839, essv13596801, essv13596789, essv13596769, essv13596754, essv13596796, essv13596742, essv13596763, essv13596841, essv13596710, essv13596814, essv13596771, essv13596849, essv13596750, essv13596729, essv13596714, essv13596766, essv13596656, essv13596687, essv13596711, essv13596828, essv13596805, essv13596797, essv13596778, essv13596659, essv13596749, essv13596798, essv13596732, essv13596776, essv13596768, essv13596718, essv13596748, essv13596817, essv13596852

Samples

HG03271, HG03096, HG02339, NA20761, NA19141, HG03366, HG01402, NA19700, HG02610, NA19703, HG03121, HG02583, NA18508, HG03163, HG02973, HG02702, HG03175, HG03111, NA20514, NA19378, HG02433, HG03517, HG03247, NA18507, HG01374, HG02836, NA18917, HG03115, HG02012, NA19092, HG02870, HG02323, HG02476, NA20294, NA19355, NA19819, NA18878, HG03100, HG03126, HG03518, HG03515, HG03193, HG03139, NA19190, HG03069, HG02769, HG03478, HG01694, NA19107, NA19446, NA19374, HG03082, HG01250, HG02621, NA19319, HG03099, HG03135, HG03499, NA19448, NA19307, HG02325, NA19119, HG02840, HG02595, HG02620, HG03370, HG03342, HG02854, NA19023, HG03578, HG02054, HG01063, HG03224, NA20287, HG02816, HG02111, HG02505, HG02562, NA20759, NA19923, NA19041, HG02573, NA19372, HG03045, NA19024, HG02885, HG02588, HG01440, HG03380, NA19239, HG02545, HG03583, HG03114, HG03369, NA19451, HG03270, HG00739, HG02716, HG03120, HG02439, NA19247, HG03054, NA19437, HG01360, HG01171, HG01200, NA19670, HG03088, NA19175, HG02236, NA19152, NA20809, NA18933, HG01162, HG02511, HG02449, NA19455, NA19982, HG01498, HG03575, NA20126, NA18910, HG01880, HG02537, HG01889, HG03124, NA18907, HG03123, HG03301, NA19461, NA18879, HG03382, NA19655, HG02445, NA19042, HG03397, HG03078, HG01241, HG03446, NA19338, HG03046, NA19452, NA19225, NA18523, HG02635, HG02896, HG01988, NA19625, HG01956, HG01896, HG02722, NA19035, HG03064, HG02255, NA19401, NA19206, HG03028, NA19440, NA19309, NA20801, HG01190, NA19149, HG03539, NA19019, HG02308, HG02983, HG02721, HG03458, HG00638, HG02837, HG02464, HG02814, HG03108, HG02771, NA19323, HG03565, HG03432, HG03039, NA20348, HG02971, HG02974, HG03025, HG02646, HG03279, HG01783, HG03258, NA19102, HG01468, NA19900, HG02051, HG02947, NA19129, NA19316, NA19312, HG02805, NA19463, HG03129, HG02006, NA19214, HG01437

Known Genes

AKAP2, PALM2-AKAP2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3621452

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	200
Observed Complex	0
Frequency	n/a