Variant Details

Variant: esv2760878

Internal ID

10028240

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:155640759..155680884	hg38	UCSC Ensembl
Inner	chr4:156561911..156602036	hg19	UCSC Ensembl
Inner	chr4:156781361..156821486	hg18	UCSC Ensembl

Cytoband

4q32.1

Allele length

Assembly	Allele length
hg38	40126
hg19	40126
hg18	40126

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7012021, essv7012012, essv7012043, essv7012023, essv7012018, essv7012004, essv7012040, essv7012019, essv7012032, essv7012028, essv7012027, essv7012025, essv7012024, essv7012029, essv7012005, essv7012020, essv7012003, essv7012030, essv7012041, essv7012016, essv7012006, essv7012039, essv7012001, essv7011999, essv7012038, essv7012015, essv7012013, essv7012042, essv7012036, essv7012014, essv7012008, essv7012035, essv7012009, essv7012002, essv7012007, essv7012031, essv7012037, essv7012010, essv7011998, essv7012017, essv7012034, essv7012026

Samples

RW_0208, RW_0635, RW_0262, RW_0595, RW_0243, RW_0181, RW_0309, RW_0334, RW_0271, RW_0174, RW_0082, RW_0228, RW_0112, RW_0074, RW_0506, RW_0592, RW_0114, RW_0122, RW_0118, RW_0659, RW_0171, RW_0251, RW_0092, RW_0201, RW_0276, RW_0053, RW_0341, RW_0145, RW_0513, RW_0190, RW_0013, RW_0273, RW_0220, RW_0183, RW_0652, RW_0263, RW_0361, RW_0144, RW_0266, RW_0336, RW_0213, RW_0630

Known Genes

GUCY1A3

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)

esv2760878

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	42
Observed Complex	0
Frequency	n/a