Variant Details

Variant: esv2421964

Internal ID

8252413

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:52477391..52586099	hg38	UCSC Ensembl
Inner	chr13:53051526..53160234	hg19	UCSC Ensembl
Inner	chr13:51949527..52058235	hg18	UCSC Ensembl

Cytoband

13q14.3

Allele length

Assembly	Allele length
hg38	108709
hg19	108709
hg18	108709

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5147278, essv5030904, essv5037320, essv5147176, essv5031641, essv5025965, essv5121016, essv5066108, essv5059098, essv5013738, essv5110501, essv5035425, essv5081296, essv5033732, essv5158157, essv5027351, essv5019609, essv5144192, essv5066216, essv5046412, essv5121295, essv5072812, essv5026351, essv5107792, essv5074628, essv5098464, essv5074425, essv5043929, essv5122500, essv5056737, essv5054326, essv5151310, essv5099887, essv5066886, essv5134978, essv5017363, essv5003108, essv5064662, essv5079597, essv5017819, essv5061211, essv5017281, essv5113193, essv5061521, essv5056314, essv5016229, essv5032326, essv5067531, essv5034187, essv5031190, essv5134409, essv5064926, essv5103190, essv5002733, essv5061255, essv5033101, essv5094931, essv5089910, essv5051725, essv5023941, essv5070322, essv5119818, essv5005603, essv5066779, essv5116079, essv5142749, essv5066057, essv5007826, essv5139810, essv5002323, essv5098363, essv5056551, essv5130810, essv5142155, essv5057920, essv5113788, essv5129970, essv5117255, essv5047372, essv5055373, essv5058023, essv5073360, essv5069107

Samples

NA20882, NA19237, NA20543, NA19397, NA21089, NA19249, NA20899, NA20816, NA12751, NA18504, NA19190, NA07346, NA21378, NA20890, NA19678, NA21526, NA20586, NA19191, NA20900, NA20911, NA21401, NA21493, NA18498, NA21353, NA20910, NA21402, NA20539, NA07014, NA21512, NA20340, NA18160, NA21453, NA19317, NA21107, NA12889, NA19036, NA20845, NA20811, NA21400, NA21344, NA19451, NA21494, NA19908, NA19247, NA12760, NA12752, NA07022, NA20809, NA19236, NA19982, NA12877, NA21631, NA21366, NA20866, NA07031, NA12829, NA06989, NA19099, NA19257, NA19452, NA20872, NA19680, NA20773, NA12864, NA21527, NA20530, NA21615, NA19324, NA20516, NA19662, NA19328, NA21404, NA07349, NA18994, NA20786, NA18155, NA19116, NA19080, NA19661, NA19044, NA21514, NA21104, NA20908

Known Genes

TPTE2P3

Method

SNP array

Analysis

To assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.

Platform

Not specified

Comments

Reference

Altshuler_et_al_2010

Pubmed ID

20811451

Accession Number(s)

esv2421964

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	83
Observed Complex	0
Frequency	n/a