Variant Details

Variant: dgv1198e212

Internal ID

22784125

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:190461170..190469348	hg38	UCSC Ensembl
	chr2:191325896..191334074	hg19	UCSC Ensembl

Cytoband

2q32.2

Allele length

Assembly	Allele length
hg38	8179
hg19	8179

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv3584246, esv3584247

Samples

400554WB, 400917CG, 400140WM, 400553PP, 401500OM, 400379BB, 400343BD, 401766MR, 400353ML, 401732HW, 400515ZG, 401437MJ, 401423BA, 401318AV, 400361HC, 401729AC, 400387HE, 401981GF, 400329HJ, 401135CS, 401797LS, 400291VJ, 401576WC, 400942HR

Known Genes

MFSD6

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)

dgv1198e212

Frequency

Sample Size	873
Observed Gain	0
Observed Loss	24
Observed Complex	0
Frequency	n/a