Variant Details

Variant: dgv831e212

Internal ID

22783758

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:55756974..55788876	hg38	UCSC Ensembl
	chr16:55790886..55822788	hg19	UCSC Ensembl

Cytoband

16q12.2

Allele length

Assembly	Allele length
hg38	31903
hg19	31903

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv3582238, esv3582214, esv3582216, esv3582239, esv3582213, esv3582218, esv3582232, esv3582228, esv3582234, esv3582229, esv3582233

Samples

401191MI, 401459HF, 401162TM, 400439IM, 401489CB, 401146US, 401285HN, 400377WJ, 400101EH, 400294HD, 400852WJ, 400493KH, 400486LS, 400674CA, 400606HW, 400688FL, 400871CM, 400427SD, 400109LJ, 400515ZG, 400533BB, 400070PC, 401736BF, 400543CK, 400829MR, 401075MN, 401812HG, 400211BJ, 400524NJ, 400014SL, 400520FM, 401874DJ, 400430KV, 401616WP, 401391PJ, 400654YW, 400837HN, 401054VM, 401661HD, 401152MV, 400849SH, 402023EC, 401395OP, 401180GR

Known Genes

CES1P1

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)

dgv831e212

Frequency

Sample Size	873
Observed Gain	0
Observed Loss	44
Observed Complex	0
Frequency	n/a