Variant Details

Variant: dgv52e203

Internal ID

20126277

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:55750518..55837223	hg38	UCSC Ensembl
	chr16:55784430..55871135	hg19	UCSC Ensembl
	chr16:54341931..54428636	hg18	UCSC Ensembl

Cytoband

16q12.2

Allele length

Assembly	Allele length
hg38	86706
hg19	86706
hg18	86706

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2762032, esv2760436

Samples

SW_0638, SW_1125, SW_0831, SW_0286, RW_0644, SW_0145, SW_1170, SW_0835, SW_0059, SW_1433, SW_0158, RW_0239, SW_0677, RW_0178, SW_1287, SW_1033, SW_0771, RW_0134, SW_1223, SW_0580, SW_1078, SW_0045, RW_0192, SW_0875, SW_1023, SW_0581, SW_0609, SW_1512, SW_1302, SW_0099, SW_0800, RW_0271, SW_0816, RW_0315, RW_0624, SW_1106, SW_0702, RW_0174, SW_1221, SW_1258, SW_1055, SW_0584, RW_0358, SW_0005, SW_0172, RW_0540, RW_0500, SW_1189, SW_1028, SW_0789, RW_0349, RW_0171, SW_1084, SW_1149, SW_0058, RW_0253, SW_1323, SW_0628, SW_0631, RW_0155, SW_1029, SW_1228, SW_1103, SW_1274, SW_1012, RW_0571, SW_0577, SW_0663, SW_1265, RW_0521, RW_0120, SW_0101, SW_0829, SW_0004, RW_0562, SW_0592, SW_1068, SW_0031, RW_0190, RW_0013, SW_0606, SW_0583, SW_1301, RW_0164, SW_0872, SW_0170, SW_0674, SW_1087, RW_0652, SW_0857, SW_1229, SW_1119, SW_0197, SW_0100, SW_0569

Known Genes

CES1, CES1P1

Method

Merging

Analysis

Two different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.

Platform

Merging

Comments

Reference

Vogler_et_al_2010

Pubmed ID

21179565

Accession Number(s)

dgv52e203

Frequency

Sample Size	1109
Observed Gain	20
Observed Loss	95
Observed Complex	0
Frequency	n/a