Variant Details

Variant: esv3605593

Internal ID

6992531

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr5:81389663..81390643	hg38	UCSC Ensembl
Inner	chr5:81389689..81390618	hg38	UCSC Ensembl
Outer	chr5:81389638..81390669	hg38	UCSC Ensembl
	chr5:80685482..80686462	hg19	UCSC Ensembl
Inner	chr5:80685508..80686437	hg19	UCSC Ensembl
Outer	chr5:80685457..80686488	hg19	UCSC Ensembl

Cytoband

5q14.1

Allele length

Assembly	Allele length
hg38	981
hg19	981

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv11956823, essv11956755, essv11956811, essv11956772, essv11956817, essv11956769, essv11956760, essv11956753, essv11956821, essv11956809, essv11956705, essv11956812, essv11956779, essv11956798, essv11956768, essv11956696, essv11956692, essv11956741, essv11956783, essv11956828, essv11956719, essv11956785, essv11956814, essv11956756, essv11956837, essv11956843, essv11956788, essv11956701, essv11956813, essv11956700, essv11956758, essv11956732, essv11956717, essv11956690, essv11956832, essv11956824, essv11956836, essv11956793, essv11956698, essv11956775, essv11956729, essv11956818, essv11956685, essv11956820, essv11956687, essv11956805, essv11956699, essv11956720, essv11956778, essv11956754, essv11956715, essv11956796, essv11956777, essv11956740, essv11956718, essv11956735, essv11956714, essv11956722, essv11956842, essv11956726, essv11956686, essv11956797, essv11956734, essv11956708, essv11956835, essv11956733, essv11956750, essv11956707, essv11956794, essv11956761, essv11956752, essv11956710, essv11956830, essv11956803, essv11956764, essv11956804, essv11956771, essv11956790, essv11956767, essv11956712, essv11956723, essv11956751, essv11956773, essv11956765, essv11956691, essv11956801, essv11956736, essv11956802, essv11956716, essv11956730, essv11956757, essv11956845, essv11956762, essv11956693, essv11956838, essv11956808, essv11956711, essv11956816, essv11956713, essv11956815, essv11956786, essv11956781, essv11956792, essv11956827, essv11956744, essv11956839, essv11956833, essv11956819, essv11956774, essv11956745, essv11956844, essv11956806, essv11956776, essv11956759, essv11956725, essv11956834, essv11956737, essv11956826, essv11956746, essv11956695, essv11956829, essv11956840, essv11956688, essv11956747, essv11956784, essv11956739, essv11956703, essv11956810, essv11956721, essv11956727, essv11956799, essv11956684, essv11956841, essv11956724, essv11956694, essv11956706, essv11956807, essv11956800, essv11956731, essv11956787, essv11956742, essv11956795, essv11956728, essv11956709, essv11956770, essv11956822, essv11956763, essv11956738, essv11956704, essv11956749, essv11956791, essv11956766, essv11956831, essv11956782, essv11956825, essv11956748, essv11956697, essv11956743, essv11956780, essv11956702, essv11956689, essv11956789

Samples

NA21120, HG03864, HG01986, NA20874, HG03096, HG02574, HG03773, HG02250, HG03228, HG03965, HG00671, NA21127, HG01031, HG04158, HG02433, NA18561, NA21100, HG02661, NA21092, HG03589, HG04076, HG02360, NA19795, HG02600, HG02323, HG03668, NA20298, HG03926, HG03963, HG03229, HG03895, HG03297, HG02734, HG01704, HG03836, HG03680, NA18627, HG03782, HG04038, HG03943, HG03722, HG01779, HG02491, HG03976, HG04206, HG03485, HG02521, NA20822, HG03578, NA20540, HG03978, HG04131, HG01372, HG03917, HG01242, HG03793, NA20759, HG03803, HG03968, NA19719, NA18560, HG00422, HG03947, HG04238, HG04047, NA21129, HG01048, HG03073, HG03058, HG01626, HG02780, HG01275, HG03832, HG03649, HG03114, HG00323, NA20515, HG04075, HG00313, NA20892, NA18538, HG03861, HG01187, HG02397, HG03457, HG02731, HG02775, HG02144, HG03900, NA21118, HG03805, HG03027, HG03823, HG03829, NA20903, HG03382, NA21124, NA21086, HG04054, HG03858, HG03713, HG02604, HG01241, HG03631, NA19001, HG03974, HG00613, HG03953, HG03391, HG03672, HG03006, NA18523, HG03991, HG03774, NA18858, HG00445, HG04200, NA21143, HG01148, NA21087, HG01858, HG00258, HG03598, HG03833, HG02557, HG01597, NA19747, HG03838, HG02983, HG01894, HG01800, HG01874, NA20790, HG00319, HG03681, NA19143, HG01086, NA20906, HG04023, HG03600, HG00513, HG02694, HG03157, HG00381, NA20847, HG03896, NA20582, NA19223, HG03849, HG02654, HG02396, NA21133, NA21101, NA21093, HG03615, HG02676, NA18873, HG01794, HG03882, HG04056, HG03867, NA21104

Known Genes

ACOT12, RNU5D-1, RNU5E-1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3605593

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	162
Observed Complex	0
Frequency	n/a