Variant Details

Variant: dgv127e203

Internal ID

20126352

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr4:143794196..144129470	hg38	UCSC Ensembl
	chr4:144715349..145050623	hg19	UCSC Ensembl
	chr4:144934799..145270073	hg18	UCSC Ensembl

Cytoband

4q31.21

Allele length

Assembly	Allele length
hg38	335275
hg19	335275
hg18	335275

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760865, esv2763856

Samples

RW_0208, RW_0585, RW_0300, RW_0237, RW_0583, RW_0636, RW_0348, RW_0526, RW_0030, RW_0553, RW_0610, SW_1202, RW_0359, RW_0268, RW_0258, RW_0606, RW_0270, SW_1092, RW_0322, RW_0555, SW_0875, RW_0011, RW_0614, SW_1252, RW_0551, RW_0334, SW_0015, RW_0115, SW_0507, RW_0269, RW_0324, RW_0602, RW_0143, RW_0065, SW_1040, RW_0505, RW_0648, SW_1357, RW_0608, RW_0618, RW_0666, RW_0085, RW_0001, RW_0222, RW_0193, RW_0231, RW_0521, SW_0887, RW_0564, RW_0021, SW_0006, SW_1068, RW_0335, SW_1292, RW_0589, RW_0132, RW_0273, RW_0220, RW_0584, SW_1463, RW_0079, RW_0038, RW_0612, RW_0191, RW_0072, RW_0554, RW_0508, RW_0590, RW_0162

Known Genes

GYPA, GYPB, GYPE

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)

dgv127e203

Frequency

Sample Size	1109
Observed Gain	17
Observed Loss	53
Observed Complex	0
Frequency	n/a