Variant Details

Variant: dgv41e203

Internal ID

22760737

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr15:23806894..23826362	hg38	UCSC Ensembl
	chr15:24052041..24071509	hg19	UCSC Ensembl
	chr15:21603134..21622602	hg18	UCSC Ensembl

Cytoband

15q11.2

Allele length

Assembly	Allele length
hg38	19469
hg19	19469
hg18	19469

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760402, esv2761855

Samples

SW_1242, RW_0071, RW_0148, RW_0010, SW_1080, RW_0093, SW_0202, SW_1397, RW_0192, SW_1065, RW_0025, SW_0116, RW_0179, RW_0315, RW_0082, RW_0241, RW_0353, RW_0024, SW_0525, SW_1477, RW_0233, SW_1190, RW_0103, SW_1040, RW_0286, RW_0346, RW_0175, RW_0029, SW_0271, SW_1194, RW_0633, RW_0210, RW_0008, SW_0165, RW_0289, RW_0036, RW_0523, RW_0521, RW_0080, SW_1318, SW_1068, RW_0117, RW_0273, RW_0621, RW_0584, RW_0124, RW_0031, SW_0586, RW_0213, RW_0162, SW_0239

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)

dgv41e203

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	51
Observed Complex	0
Frequency	n/a