Variant Details

Variant: esv2421783

Internal ID

7905545

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:64963532..64964114	hg38	UCSC Ensembl
Inner	chr1:65429215..65429797	hg19	UCSC Ensembl
Inner	chr1:65201803..65202385	hg18	UCSC Ensembl

Cytoband

1p31.3

Allele length

Assembly	Allele length
hg38	583
hg19	583
hg18	583

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5109181, essv5063334, essv5094736, essv5085543, essv5066518, essv5043503, essv5138124, essv5004282, essv5057689, essv5138245, essv5032463, essv5092611, essv5013325, essv5063319, essv5136823, essv5145137, essv5095205, essv5054997, essv5093865, essv5087965, essv5069662, essv5072144, essv5079483, essv5033536, essv5152928, essv5066651, essv5149570, essv5149712, essv5088555, essv5006625, essv5152768, essv5058399, essv5073697, essv5052164, essv5019376, essv5137564, essv5101361, essv5151965, essv5131537, essv5058604, essv5103290, essv5152180, essv5106478, essv5116557, essv5016734, essv5055615, essv5129412, essv5102813, essv5156482, essv5029641, essv5009899, essv5142947, essv5131604, essv5139096, essv5009941, essv5008836, essv5020999, essv5030424, essv5058472, essv5075599, essv5036262, essv5160218, essv5018792, essv5143405, essv5156947, essv5090252, essv5144485, essv5125418, essv5016022, essv5049641, essv5143701, essv5160003, essv5035629, essv5160020, essv5135532, essv5065574, essv5041361, essv5153391, essv5156385, essv5083707, essv5086612, essv5037018, essv5137087, essv5146149, essv5140237, essv5086562, essv5038937, essv5160284, essv5155544, essv5029527, essv5090879, essv5087078, essv5028980, essv5030749, essv5010002

Samples

NA18642, NA18166, NA20771, NA18594, NA21524, NA20859, NA18561, NA18117, NA18966, NA17990, NA18550, NA18124, NA18948, NA18529, NA18947, NA19010, NA18134, NA20909, NA20894, NA18702, NA20805, NA18109, NA20845, NA18156, NA18965, NA18682, NA18557, NA18745, NA20853, NA18943, NA18628, NA18139, NA17993, NA18559, NA17986, NA19067, NA19085, NA20885, NA18627, NA20849, NA19652, NA18566, NA19068, NA18960, NA18990, NA18118, NA18991, NA19066, NA18959, NA18609, NA18138, NA18643, NA18970, NA18144, NA18149, NA21143, NA18135, NA18645, NA21525, NA17966, NA18572, NA18132, NA19657, NA18106, NA18151, NA19002, NA18558, NA19708, NA18102, NA18564, NA18942, NA19001, NA17996, NA17987, NA18579, NA20879, NA18945, NA20858, NA18999, NA18995, NA18631, NA18577, NA18146, NA18147, NA18614, NA18548, NA21436, NA18610, NA11829, NA21105, NA18112, NA18615, NA17965, NA19007, NA17974

Known Genes

JAK1

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)

esv2421783

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	95
Observed Complex	0
Frequency	n/a