Variant Details

Variant: esv3592149

Internal ID

6979476

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:118123822..118124710	hg38	UCSC Ensembl
Inner	chr2:118123823..118124710	hg38	UCSC Ensembl
Outer	chr2:118123822..118124711	hg38	UCSC Ensembl
	chr2:118881398..118882286	hg19	UCSC Ensembl
Inner	chr2:118881399..118882286	hg19	UCSC Ensembl
Outer	chr2:118881398..118882287	hg19	UCSC Ensembl

Cytoband

2q14.2

Allele length

Assembly	Allele length
hg38	889
hg19	889

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10638916, essv10638876, essv10638848, essv10638871, essv10638897, essv10638901, essv10638877, essv10638844, essv10638853, essv10638847, essv10638913, essv10638863, essv10638845, essv10638902, essv10638895, essv10638854, essv10638888, essv10638891, essv10638910, essv10638883, essv10638904, essv10638918, essv10638855, essv10638912, essv10638885, essv10638884, essv10638849, essv10638899, essv10638869, essv10638890, essv10638868, essv10638889, essv10638872, essv10638908, essv10638907, essv10638893, essv10638911, essv10638859, essv10638882, essv10638917, essv10638915, essv10638867, essv10638906, essv10638861, essv10638865, essv10638894, essv10638875, essv10638860, essv10638862, essv10638892, essv10638914, essv10638878, essv10638846, essv10638886, essv10638856, essv10638858, essv10638919, essv10638887, essv10638864, essv10638920, essv10638874, essv10638857, essv10638873, essv10638900, essv10638898, essv10638881, essv10638879, essv10638850, essv10638870, essv10638866, essv10638852, essv10638896, essv10638851, essv10638909, essv10638880, essv10638903, essv10638905

Samples

HG01412, HG00143, HG00102, NA10851, HG03607, HG00151, NA20532, NA19020, NA12751, HG03518, HG01518, HG00337, HG03199, HG01676, HG00238, HG00129, NA20769, NA07048, HG03874, NA12287, HG00120, NA12156, HG01281, HG03888, NA19172, HG01892, HG01058, HG03048, NA10847, HG00137, HG01171, HG00380, HG01247, NA20505, HG02236, NA21119, HG01515, HG01879, HG01345, HG01149, HG02470, NA19654, NA12829, HG02008, HG01241, HG02309, NA06989, HG00140, HG01705, HG00146, HG01679, HG00099, HG00376, NA21143, NA20801, NA19434, HG03875, HG03539, HG00357, HG00734, NA20527, HG00308, HG01494, NA19428, NA19786, HG00116, NA19360, NA12874, HG00269, HG00381, HG03313, NA20852, HG01269, HG02774, NA18522, HG01112, NA19429

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3592149

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	77
Observed Complex	0
Frequency	n/a