Variant Details

Variant: esv2421541

Internal ID

7905303

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:109325460..109326208	hg38	UCSC Ensembl
Inner	chr3:109044307..109045055	hg19	UCSC Ensembl
Inner	chr3:110526997..110527745	hg18	UCSC Ensembl

Cytoband

3q13.13

Allele length

Assembly	Allele length
hg38	749
hg19	749
hg18	749

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5096366, essv5132683, essv5035154, essv5159572, essv5030977, essv5132419, essv5158199, essv5049385, essv5031358, essv5158844, essv5072228, essv5055657, essv5005981, essv5127182, essv5033111, essv5151947, essv5105025, essv5058243, essv5069512, essv5064771, essv5047956, essv5041887, essv5022991, essv5099660, essv5106295, essv5049141, essv5013938, essv5022567, essv5101386, essv5046104, essv5020113, essv5076788, essv5100725, essv5112171, essv5023916, essv5152556, essv5137705, essv5082168, essv5129298, essv5061798, essv5153815, essv5113871, essv5050367, essv5113882, essv5071970, essv5009244, essv5146886, essv5050996, essv5042072, essv5020903, essv5092667, essv5014587, essv5084831, essv5102036, essv5061457, essv5116244, essv5061006, essv5099640, essv5012706, essv5120429, essv5065350, essv5105826, essv5087841, essv5081007, essv5092426, essv5108644, essv5093572, essv5091939, essv5119794, essv5095301, essv5101609, essv5021654, essv5150121, essv5094040, essv5030340, essv5027037, essv5024042, essv5155564, essv5130974, essv5046298, essv5038479, essv5111666, essv5005530, essv5006296, essv5100062, essv5085502, essv5024114, essv5002410, essv5033220, essv5048407, essv5105009, essv5153531, essv5133532, essv5073475, essv5059894, essv5120918, essv5123351, essv5156318, essv5141311, essv5108680, essv5082979, essv5043228, essv5074216, essv5107853, essv5007909, essv5081607, essv5107451, essv5051583, essv5087442, essv5006598, essv5085920, essv5153748, essv5109731, essv5040110, essv5071895, essv5137754, essv5093815, essv5093765, essv5005646, essv5154675, essv5039057, essv5154891, essv5079100, essv5002029, essv5006999, essv5145004, essv5013301, essv5108084, essv5046006, essv5145764, essv5156327, essv5135335, essv5048782, essv5042825, essv5070063, essv5059261, essv5094922, essv5150655, essv5055547, essv5026228, essv5031186, essv5020771, essv5075302, essv5034314, essv5150279, essv5042611, essv5037115, essv5025620, essv5007884, essv5048048, essv5015935, essv5010808, essv5044718, essv5147927, essv5001979, essv5100249, essv5027604, essv5023396, essv5157539, essv5087231, essv5078759, essv5049844, essv5025223, essv5097508, essv5144176, essv5099019, essv5143429, essv5094795, essv5131636, essv5023014, essv5038848, essv5077832, essv5070207, essv5118982, essv5148789, essv5097724, essv5063711, essv5156549, essv5038380, essv5028084, essv5048805, essv5049793, essv5063491, essv5157264, essv5036678, essv5029526, essv5143773, essv5089584, essv5033472, essv5072828, essv5004209, essv5156489, essv5061938, essv5062863, essv5098388, essv5157227, essv5130628, essv5128977, essv5130158, essv5101652, essv5043441, essv5084504, essv5137002, essv5055523, essv5140946, essv5138684, essv5138141, essv5095234, essv5073784, essv5011103, essv5108193, essv5072645, essv5068951, essv5017806, essv5096327, essv5059621, essv5016168, essv5067296, essv5009251, essv5149426, essv5038753, essv5108394, essv5038533, essv5137480, essv5002015, essv5109253, essv5074454, essv5023317, essv5092156, essv5005760, essv5025130, essv5027151, essv5138763, essv5147764, essv5119414, essv5082137

Samples

NA19258, NA21636, NA21317, NA21524, NA21488, NA21423, NA18862, NA18508, NA21352, NA19359, NA21489, NA18925, NA20332, NA19377, NA21475, NA21360, NA21635, NA19443, NA20356, NA21522, NA20771, NA21776, NA21739, NA21434, NA19127, NA19192, NA18519, NA21520, NA19315, NA21359, NA21473, NA18923, NA21297, NA18916, NA21479, NA19457, NA21353, NA20287, NA19904, NA19384, NA21613, NA21391, NA19130, NA19041, NA21650, NA21529, NA19123, NA18868, NA19215, NA19235, NA19207, NA19172, NA18966, NA19226, NA19036, NA21357, NA20342, NA21420, NA21387, NA20127, NA19789, NA19027, NA21313, NA19908, NA21414, NA21587, NA19403, NA19175, NA19161, NA19184, NA19455, NA21300, NA21631, NA18871, NA19103, NA21438, NA21308, NA19150, NA19151, NA18930, NA18912, NA19099, NA19452, NA21356, NA19132, NA21309, NA19625, NA19375, NA19256, NA19434, NA21576, NA21528, NA21336, NA19444, NA21685, NA21768, NA19428, NA21582, NA19360, NA19783, NA19117, NA18484, NA21435, NA19223, NA19468, NA19474, NA19211, NA18509, NA20289, NA20758, NA18872, NA19121, NA19430, NA21487, NA21421, NA19429, NA19214, NA19431, NA18497, NA20284, NA19237, NA20290, NA21686, NA21477, NA18924, NA19332, NA21519, NA21476, NA18507, NA19819, NA21648, NA19393, NA21717, NA21386, NA21741, NA21693, NA18870, NA19314, NA21784, NA19381, NA19382, NA21526, NA19723, NA19119, NA21355, NA19352, NA19138, NA18498, NA21370, NA19038, NA19651, NA21454, NA19917, NA19915, NA21453, NA19471, NA19317, NA21478, NA19087, NA19159, NA21716, NA19901, NA18520, NA21362, NA19209, NA21442, NA19456, NA19445, NA21320, NA19451, NA21494, NA20129, NA21480, NA19437, NA21682, NA19347, NA18956, NA19327, NA19236, NA19982, NA18503, NA19776, NA21485, NA19983, NA19118, NA19449, NA18518, NA21339, NA21826, NA19031, NA21678, NA19113, NA21578, NA18853, NA19101, NA19257, NA21583, NA19160, NA19308, NA21314, NA18914, NA18909, NA19108, NA21527, NA19473, NA21311, NA19174, NA19773, NA21733, NA21517, NA19919, NA19310, NA20341, NA20357, NA20333, NA19376, NA19398, NA21379, NA21364, NA21580, NA19438, NA19713, NA18506, NA18854, NA21455, NA21312, NA21385, NA20128, NA21490, NA18505, NA19224, NA18488, NA19139, NA18511, NA21440, NA21333

Known Genes

DPPA4

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)

esv2421541

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	236
Observed Complex	0
Frequency	n/a