Variant Details

Variant: esv2760413

Internal ID

10027776

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:31982609..34209701	hg38	UCSC Ensembl
Inner	chr16:31993930..34012168	hg19	UCSC Ensembl
Inner	chr16:31901431..33919669	hg18	UCSC Ensembl

Cytoband

16p11.2

Allele length

Assembly	Allele length
hg38	2227093
hg19	2018239
hg18	2018239

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv50e203

Supporting Variants

essv7023848, essv7023776, essv7023800, essv7023767, essv7023817, essv7023773, essv7023735, essv7023860, essv7023849, essv7023822, essv7023865, essv7023734, essv7023784, essv7023771, essv7023819, essv7023811, essv7023861, essv7023731, essv7023851, essv7023795, essv7023825, essv7023758, essv7023818, essv7023747, essv7023841, essv7023775, essv7023845, essv7023791, essv7023780, essv7023862, essv7023746, essv7023737, essv7023830, essv7023807, essv7023738, essv7023859, essv7023846, essv7023839, essv7023806, essv7023867, essv7023827, essv7023836, essv7023829, essv7023751, essv7023864, essv7023789, essv7023781, essv7023798, essv7023785, essv7023833, essv7023847, essv7023831, essv7023783, essv7023772, essv7023840, essv7023828, essv7023803, essv7023756, essv7023742, essv7023856, essv7023820, essv7023796, essv7023852, essv7023813, essv7023782, essv7023768, essv7023816, essv7023812, essv7023808, essv7023868, essv7023814, essv7023794, essv7023761, essv7023858, essv7023739, essv7023752, essv7023824, essv7023797, essv7023760, essv7023835, essv7023790, essv7023792, essv7023749, essv7023774, essv7023823, essv7023857, essv7023764, essv7023802, essv7023850, essv7023754, essv7023778, essv7023757, essv7023826, essv7023844, essv7023779, essv7023809, essv7023762, essv7023748, essv7023837, essv7023765, essv7023745, essv7023787, essv7023834, essv7023759, essv7023842, essv7023733, essv7023838, essv7023786, essv7023770, essv7023801, essv7023793, essv7023763, essv7023740, essv7023741, essv7023736, essv7023804, essv7023753, essv7023805, essv7023863, essv7023815, essv7023769, essv7023853, essv7023750

Samples

RW_0237, RW_0526, RW_0345, RW_0538, RW_0359, RW_0634, RW_0152, RW_0178, RW_0090, RW_0104, RW_0606, RW_0187, RW_0559, RW_0297, RW_0656, RW_0189, RW_0025, RW_0022, RW_0012, RW_0255, RW_0617, RW_0551, RW_0334, RW_0062, RW_0216, RW_0626, RW_0241, RW_0353, RW_0131, RW_0512, RW_0592, RW_0522, RW_0639, RW_0659, RW_0500, RW_0651, RW_0061, RW_0602, RW_0349, RW_0171, RW_0576, RW_0505, RW_0546, RW_0645, RW_0253, RW_0567, RW_0227, RW_0175, RW_0077, RW_0155, RW_0666, RW_0177, RW_0325, RW_0140, RW_0653, RW_0625, RW_0597, RW_0129, RW_0020, RW_0534, RW_0524, RW_0307, RW_0201, RW_0328, RW_0088, RW_0578, RW_0320, RW_0231, RW_0195, RW_0120, RW_0166, RW_0543, RW_0663, RW_0326, RW_0529, RW_0589, RW_0273, RW_0164, RW_0215, RW_0574, RW_0128, RW_0579, RW_0599, RW_0149, RW_0183, RW_0170, RW_0124, RW_0277, RW_0079, RW_0070, RW_0518, RW_0361, RW_0209, RW_0191, RW_0234, RW_0107, RW_0550, RW_0060, RW_0248, RW_0041, RW_0213, RW_0162, RW_0532

Known Genes

HERC2P4, LINC00273, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D

Method

Merging

Analysis

Two different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.

Platform

Merging

Comments

Reference

Vogler_et_al_2010

Pubmed ID

21179565

Accession Number(s)

esv2760413

Frequency

Sample Size	1109
Observed Gain	50
Observed Loss	59
Observed Complex	0
Frequency	n/a