Variant Details

Variant: dgv25e203

Internal ID

22760721

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:30082346..30091847	hg38	UCSC Ensembl
	chr12:30235279..30244780	hg19	UCSC Ensembl
	chr12:30126546..30136047	hg18	UCSC Ensembl

Cytoband

12p11.22

Allele length

Assembly	Allele length
hg38	9502
hg19	9502
hg18	9502

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760866, esv2760246

Samples

SW_0370, SW_0057, RW_0138, RW_0095, SW_1086, SW_1298, SW_0059, SW_1433, SW_0164, SW_0639, SW_1365, SW_0846, SW_1325, SW_1232, RW_0116, SW_0032, SW_1351, SW_0702, SW_0200, SW_1258, SW_0085, RW_0603, SW_1309, SW_1469, SW_0862, SW_0369, SW_0172, SW_0758, SW_0077, SW_1446, SW_1172, SW_0008, RW_0546, SW_0058, SW_0076, RW_0211, SW_0089, SW_1295, SW_0017, RW_0276, SW_0775, SW_0007, SW_0118, SW_0887, SW_0101, SW_1318, SW_0006, SW_1074, RW_0119, RW_0108, SW_1373, SW_0632, SW_1077, RW_0183, SW_1509, SW_1308, SW_0159, SW_1208

Known Genes

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)

dgv25e203

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	58
Observed Complex	0
Frequency	n/a