Variant Details

Variant: esv2714415

Internal ID

10298051

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr16:46385086..46402347	hg38	UCSC Ensembl
Outer	chr16:46418998..46436259	hg19	UCSC Ensembl

Cytoband

16q11.2

Allele length

Assembly	Allele length
hg38	17262
hg19	17262

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv365e201

Supporting Variants

essv6688736, essv6953832, essv6895152, essv6815926, essv6945586, essv6885443, essv6692069, essv6839194, essv6820313, essv6717352, essv6721246, essv6949642, essv6803892, essv6721240, essv6674058, essv6867850, essv6713483, essv6796604, essv6768918, essv6665548, essv6916633, essv6735524, essv6696117, essv6820315, essv6960208, essv6831827, essv6717351, essv6839172, essv6753486, essv6843022, essv6966673, essv6688720, essv6863050, essv6800823, essv6870786, essv6909420, essv6665553, essv6871145, essv6678391, essv6738252, essv6784163, essv6796612, essv6682089, essv6863039, essv6874068, essv6940932, essv6940931, essv6879878, essv6742509, essv6682086, essv6758578, essv6901030, essv6909411, essv6877090, essv6966677, essv6916654, essv6742520, essv6936767, essv6863051, essv6699116, essv6863040, essv6870821, essv6812616, essv6905434, essv6932461, essv6966676, essv6779990, essv6839193, essv6966687, essv6835406, essv6831828, essv6742531, essv6828270, essv6871146, essv6913150, essv6888440, essv6891719, essv6858036, essv6835413, essv6800824, essv6682087, essv6725029, essv6728842, essv6888436, essv6788335, essv6665552, essv6692070, essv6879864, essv6776799, essv6682090, essv6717350, essv6940935, essv6945585, essv6706686, essv6776788, essv6753708, essv6792423, essv6674056, essv6916656, essv6885440, essv6852053, essv6898030, essv6971411, essv6885445, essv6928375, essv6888419, essv6706668, essv6815930, essv6703022, essv6674062, essv6699115, essv6800819, essv6932458, essv6741532, essv6674057, essv6703026, essv6928405, essv6975829, essv6732691, essv6924883, essv6776200, essv6943295, essv6858033, essv6846371, essv6800816, essv6936766, essv6924879, essv6870843, essv6750041, essv6936765, essv6812620, essv6725024, essv6674055, essv6732689, essv6913159, essv6831818, essv6901813, essv6665549, essv6895149, essv6971409, essv6913156, essv6732673, essv6779989, essv6909419, essv6932453, essv6831846, essv6940936, essv6852067, essv6911874, essv6772630, essv6898029, essv6828266, essv6846372, essv6768907, essv6728838, essv6888439, essv6924882, essv6831829, essv6788334, essv6911896, essv6879863, essv6949655, essv6874063, essv6877092, essv6772629, essv6882721, essv6828263, essv6895162, essv6685559, essv6810321, essv6871144, essv6713482, essv6971408, essv6885444, essv6843016, essv6846367, essv6960205, essv6721247, essv6784164, essv6960210, essv6901036, essv6735522, essv6824186, essv6975840, essv6879879, essv6928400, essv6732690, essv6882719, essv6728836, essv6901812, essv6966685, essv6755964, essv6682082, essv6871147, essv6744389, essv6674051, essv6812617, essv6809804, essv6920781, essv6953839, essv6824184, essv6835414, essv6913149, essv6800814, essv6870832, essv6690988, essv6776214, essv6713450, essv6696121, essv6806782, essv6741530, essv6792416, essv6877088, essv6882744, essv6709948, essv6828269, essv6867845, essv6796602, essv6843023, essv6839173, essv6905435, essv6895148, essv6852062, essv6867844, essv6753375, essv6685546, essv6971410, essv6975851, essv6678366, essv6763714, essv6913148, essv6747213, essv6891735, essv6839171, essv6824185, essv6852063, essv6721241, essv6685558, essv6776199, essv6755963, essv6911863, essv6753597, essv6920782, essv6717349, essv6810354, essv6792415

Samples

SSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM012

Known Genes

Method

Sequencing

Analysis

Breakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads

Platform

Illumina HiSeq 2000

Comments

Reference

Wong_et_al_2012b

Pubmed ID

23290073

Accession Number(s)

esv2714415

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	90
Observed Complex	0
Frequency	n/a