Variant Details

Variant: esv2422104

Internal ID

8252552

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:41350863..41368926	hg38	UCSC Ensembl
Inner	chr17:39507115..39525178	hg19	UCSC Ensembl
Inner	chr17:36760641..36778704	hg18	UCSC Ensembl

Cytoband

17q21.2

Allele length

Assembly	Allele length
hg38	18064
hg19	18064
hg18	18064

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5043690, essv5125757, essv5011939, essv5136063, essv5159438, essv5060097, essv5053215, essv5044091, essv5057332, essv5016696, essv5149193, essv5118943, essv5078938, essv5047089, essv5024241, essv5019204, essv5104528, essv5131947, essv5080525, essv5029506, essv5024192, essv5057664, essv5054258, essv5082635, essv5007325, essv5151147, essv5136758, essv5068312, essv5052833, essv5002603, essv5023827, essv5104504, essv5125446, essv5119169, essv5023167, essv5077152, essv5130095, essv5047705, essv5156495, essv5018329, essv5055567, essv5052849, essv5126993, essv5113420, essv5127143, essv5069934, essv5035310, essv5030224, essv5148563, essv5037038, essv5067828, essv5073113, essv5003666, essv5156349, essv5086655, essv5115277, essv5066432, essv5118040, essv5095495, essv5128151, essv5111835, essv5042005, essv5065806, essv5106326, essv5121786, essv5045577, essv5029169, essv5046713, essv5119056, essv5097852, essv5134435, essv5035409, essv5113063, essv5046158, essv5107735, essv5112318, essv5022964, essv5134860, essv5139578, essv5034022, essv5160371, essv5147154, essv5067252, essv5087253, essv5097717, essv5085046, essv5004721, essv5060527

Samples

NA19237, NA19028, NA19222, NA21636, NA19700, NA19203, NA19204, NA18508, NA18935, NA21597, NA18917, NA19359, NA20294, NA21648, NA19393, NA19190, NA19098, NA21520, NA21359, NA18489, NA19902, NA19307, NA19191, NA20317, NA18860, NA19131, NA18916, NA20336, NA19904, NA21370, NA19371, NA19235, NA19702, NA19239, NA19209, NA21634, NA19456, NA20127, NA21344, NA19200, NA21587, NA21318, NA21596, NA19152, NA18933, NA18859, NA19184, NA18485, NA19455, NA21300, NA20126, NA19103, NA19983, NA19202, NA19114, NA19142, NA21339, NA18930, NA19113, NA19154, NA19101, NA19257, NA19452, NA19095, NA19436, NA21573, NA19375, NA19094, NA19115, NA19108, NA19140, NA19444, NA19240, NA21647, NA19310, NA21361, NA19182, NA21435, NA19713, NA19211, NA19093, NA18500, NA18506, NA21312, NA19900, NA21509, NA20128, NA19346

Known Genes

KRT33B

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)

esv2422104

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	88
Observed Complex	0
Frequency	n/a