Variant Details

Variant: esv3573219

Internal ID

18354731

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:42044283..42051477	hg38	UCSC Ensembl
Inner	chr17:40196301..40203495	hg19	UCSC Ensembl

Cytoband

17q21.2

Allele length

Assembly	Allele length
hg38	7195
hg19	7195

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv9813853, essv9813845, essv9813832, essv9813830, essv9813827, essv9813841, essv9813864, essv9813869, essv9813854, essv9813837, essv9813856, essv9813851, essv9813828, essv9813868, essv9813862, essv9813850, essv9813838, essv9813859, essv9813846, essv9813858, essv9813842, essv9813865, essv9813840, essv9813834, essv9813835, essv9813848, essv9813836, essv9813860, essv9813839, essv9813861, essv9813829, essv9813863, essv9813843, essv9813831, essv9813857, essv9813852, essv9813849, essv9813847

Samples

400920MK, 400880TM, 400618GC, 401212HJ, 401949MN, 401857VG, 400241CP, 400528LR, 401064FR, 401695BT, 400033KC, 401831TW, 400478WE, 401746WW, 401646MC, 400218WK, 401377MA, 401050GS, 401979TB, 401804FG, 401526WB, 400093BL, 401968HL, 401618HR, 401942MP, 400361HC, 401075MN, 401580CA, 401200BD, 401677MM, 401334DH, 401595BL, 401571SD, 400971MK, 400271SR, 401543DC, 401453OL, 401480PG

Known Genes

Method

SNP array

Analysis

We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.

Platform

Affymetrix CytoScan HD 2.7M array

Comments

Reference

Uddin_et_al_2014

Pubmed ID

25503493

Accession Number(s)

esv3573219

Frequency

Sample Size	873
Observed Gain	38
Observed Loss	0
Observed Complex	0
Frequency	n/a