Variant Details

Variant: dgv140e203

Internal ID

22760836

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr6:257353..382897	hg38	UCSC Ensembl
	chr6:257353..382897	hg19	UCSC Ensembl
	chr6:202353..327897	hg18	UCSC Ensembl

Cytoband

6p25.3

Allele length

Assembly	Allele length
hg38	125545
hg19	125545
hg18	125545

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2761026, esv2763964

Samples

SW_1451, SW_1125, SW_1000, SW_0119, SW_1170, SW_1459, SW_0575, RW_0520, SW_0003, SW_1141, SW_1436, SW_0639, RW_0090, SW_1325, SW_1033, SW_1223, SW_1097, SW_1138, SW_1379, SW_0173, SW_0020, SW_1252, SW_1254, SW_0085, SW_1305, SW_0141, SW_0584, SW_1456, SW_0507, SW_0552, SW_1547, SW_1476, RW_0121, SW_1468, SW_1288, SW_0071, SW_1404, SW_1408, SW_1569, SW_1358, SW_1446, SW_1289, SW_1149, SW_1043, SW_1357, RW_0185, RW_0175, SW_1543, SW_1162, SW_1079, SW_1194, SW_1483, SW_0183, SW_0091, RW_0667, RW_0523, SW_1378, SW_0814, SW_0004, SW_1478, RW_0663, SW_1422, SW_0113, RW_0048, SW_1096, SW_1039, SW_1180, SW_0170, SW_0009, SW_1424, SW_1384, SW_1386, SW_1308, SW_1279, RW_0072, SW_0624

Known Genes

DUSP22

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)

dgv140e203

Frequency

Sample Size	1109
Observed Gain	60
Observed Loss	16
Observed Complex	0
Frequency	n/a