Variant Details

Variant: esv3631954

Internal ID

7018764

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr13:45374291..45385591	hg38	UCSC Ensembl
	chr13:45948426..45959726	hg19	UCSC Ensembl

Cytoband

13q14.13

Allele length

Assembly	Allele length
hg38	11301
hg19	11301

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14710862, essv14710871, essv14710855, essv14710846, essv14710860, essv14710838, essv14710864, essv14710823, essv14710829, essv14710835, essv14710834, essv14710828, essv14710875, essv14710849, essv14710858, essv14710836, essv14710854, essv14710850, essv14710839, essv14710865, essv14710830, essv14710863, essv14710847, essv14710851, essv14710866, essv14710826, essv14710859, essv14710852, essv14710827, essv14710831, essv14710824, essv14710870, essv14710832, essv14710844, essv14710853, essv14710840, essv14710841, essv14710867, essv14710876, essv14710856, essv14710845, essv14710868, essv14710842, essv14710857, essv14710825, essv14710873, essv14710837, essv14710843, essv14710874, essv14710872, essv14710848, essv14710833, essv14710861, essv14710869

Samples

NA19028, NA19141, HG03378, HG03548, NA18508, HG03247, NA18881, HG02804, HG02323, HG03295, HG02536, HG03095, HG02811, HG03452, HG02756, HG02645, HG03195, NA20412, NA19239, NA20355, HG03054, HG01879, HG02450, HG02953, HG02887, HG02307, NA20126, HG02878, HG03136, HG03446, HG02881, NA18523, NA19318, NA19095, HG02594, HG01956, HG02807, HG02667, HG03539, NA19019, HG02611, HG03084, NA19328, HG03565, HG02938, NA19713, HG02462, HG02013, HG02028, HG01464, NA18505, HG03072, HG02284, HG02643

Known Genes

TPT1-AS1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3631954

Frequency

Sample Size	2504
Observed Gain	54
Observed Loss	0
Observed Complex	0
Frequency	n/a