Variant Details

Variant: dgv42e203

Internal ID

20126267

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr15:30077711..30807423	hg38	UCSC Ensembl
	chr15:30369914..31099626	hg19	UCSC Ensembl
	chr15:28157206..28886918	hg18	UCSC Ensembl

Cytoband

15q13.2

Allele length

Assembly	Allele length
hg38	729713
hg19	729713
hg18	729713

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760396, esv2761732

Samples

RW_0169, RW_0123, RW_0300, SW_1222, SW_0142, SW_1375, RW_0069, SW_1433, SW_0158, RW_0520, RW_0196, RW_0007, SW_1259, SW_1268, SW_1150, RW_0178, RW_0104, SW_1343, RW_0146, RW_0297, RW_0226, SW_0691, SW_1114, RW_0271, SW_0604, SW_1254, SW_1455, SW_1055, RW_0304, RW_0267, RW_0024, RW_0616, RW_0506, RW_0522, SW_0077, SW_1165, SW_0073, RW_0602, RW_0349, RW_0094, SW_1527, RW_0619, RW_0280, RW_0286, RW_0002, RW_0299, RW_0085, RW_0325, RW_0129, RW_0020, RW_0633, SW_1072, SW_0577, SW_1482, SW_1193, RW_0078, SW_1326, SW_0190, SW_1345, SW_0592, SW_1334, SW_0568, SW_0103, RW_0200, RW_0190, RW_0048, SW_1429, RW_0132, RW_0284, RW_0273, RW_0045, RW_0613, RW_0110, SW_0144, SW_1147, RW_0063, RW_0508, SW_0241, SW_1450, SW_1281

Known Genes

ARHGAP11B, CHRFAM7A, DKFZP434L187, GOLGA8H, GOLGA8J, GOLGA8T, LOC100288637, LOC101059918, ULK4P1, ULK4P2, ULK4P3

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)

dgv42e203

Frequency

Sample Size	1109
Observed Gain	34
Observed Loss	46
Observed Complex	0
Frequency	n/a