Variant Details

Variant: esv2422173

Internal ID

7905935

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:147015583..147017695	hg38	UCSC Ensembl
Inner	chr5:146395146..146397258	hg19	UCSC Ensembl
Inner	chr5:146375339..146377451	hg18	UCSC Ensembl

Cytoband

5q32

Allele length

Assembly	Allele length
hg38	2113
hg19	2113
hg18	2113

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5126986, essv5038283, essv5141292, essv5018253, essv5108677, essv5123549, essv5073430, essv5010524, essv5006048, essv5135672, essv5027171, essv5106470, essv5005345, essv5102594, essv5102685, essv5074812, essv5005033, essv5130146, essv5059369, essv5143385, essv5129188, essv5105001, essv5141175, essv5021285, essv5130326, essv5015035, essv5128590, essv5026535, essv5124970, essv5086907, essv5136128, essv5055445, essv5024847, essv5072656, essv5149533, essv5045839, essv5044660, essv5062154, essv5100227, essv5017549, essv5025522, essv5088711, essv5142220, essv5034257, essv5121729, essv5078054, essv5055024, essv5086595, essv5044707, essv5073810, essv5116175, essv5158244, essv5104554, essv5149714, essv5132711, essv5050352, essv5013804, essv5141927, essv5002843, essv5131642, essv5119682, essv5032090, essv5009403, essv5139153, essv5079320, essv5122783, essv5147666, essv5100487, essv5051863, essv5099180, essv5031430, essv5149793, essv5130505, essv5126055, essv5071300, essv5149219, essv5122033, essv5091060, essv5148193, essv5022498, essv5142152, essv5010026, essv5032165, essv5020498, essv5013852, essv5150468, essv5093109, essv5053994, essv5051199, essv5124364, essv5019364, essv5066160, essv5074066, essv5101052, essv5061634, essv5004560, essv5089015, essv5088749, essv5089293, essv5076092, essv5152394, essv5031603, essv5011780, essv5058672, essv5065412, essv5118166, essv5154105, essv5079665, essv5025486

Samples

NA18998, NA18947, NA19066, NA18647, NA18592, NA20300, NA18524, NA18980, NA18599, NA17975, NA18641, NA18603, NA18639, NA18596, NA18959, NA18125, NA18633, NA18962, NA18627, NA18967, NA19068, NA19005, NA18944, NA18595, NA19723, NA18993, NA18960, NA18942, NA18618, NA19724, NA18642, NA18571, NA17983, NA19079, NA19760, NA18136, NA18970, NA21611, NA17997, NA18112, NA18748, NA18617, NA19087, NA18154, NA18640, NA18954, NA18158, NA18605, NA17976, NA18613, NA19056, NA18674, NA18117, NA19086, NA18109, NA18694, NA18991, NA18529, NA18685, NA18151, NA19081, NA18572, NA19064, NA18757, NA17977, NA18573, NA17979, NA19000, NA18156, NA17967, NA18946, NA18532, NA17965, NA19009, NA18555, NA18127, NA18593, NA18945, NA18974, NA18576, NA18546, NA18608, NA18953, NA18108, NA18114, NA18632, NA18146, NA18162, NA18559, NA19072, NA19010, NA17970, NA19083, NA18594, NA19078, NA18971, NA18134, NA17987, NA19080, NA18552, NA18955, NA19063, NA19065, NA18740, NA18144, NA18612, NA18148, NA18622, NA18965

Known Genes

PPP2R2B

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)

esv2422173

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	109
Observed Complex	0
Frequency	n/a