Variant Details

Variant: esv2760808

Internal ID

10377115

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:165548290..165591080	hg38	UCSC Ensembl
Inner	chr3:165266078..165308868	hg19	UCSC Ensembl
Inner	chr3:166748772..166791562	hg18	UCSC Ensembl

Cytoband

3q26.1

Allele length

Assembly	Allele length
hg38	42791
hg19	42791
hg18	42791

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7009758, essv7009788, essv7009769, essv7009748, essv7009770, essv7009783, essv7009773, essv7009747, essv7009784, essv7009795, essv7009797, essv7009772, essv7009757, essv7009754, essv7009792, essv7009766, essv7009782, essv7009787, essv7009779, essv7009785, essv7009755, essv7009796, essv7009753, essv7009791, essv7009774, essv7009793, essv7009750, essv7009781, essv7009752, essv7009776, essv7009790, essv7009780, essv7009794, essv7009777, essv7009764, essv7009775, essv7009760, essv7009751, essv7009763, essv7009749, essv7009759, essv7009771, essv7009768, essv7009786, essv7009765, essv7009762, essv7009761, essv7009798

Samples

RW_0237, RW_0203, RW_0069, RW_0305, RW_0196, RW_0141, RW_0205, RW_0180, RW_0510, RW_0137, RW_0125, RW_0049, RW_0100, RW_0228, RW_0267, RW_0558, RW_0540, RW_0324, RW_0602, RW_0171, RW_0005, RW_0619, RW_0318, RW_0567, RW_0346, RW_0655, RW_0611, RW_0054, RW_0302, RW_0515, RW_0252, RW_0212, RW_0260, RW_0328, RW_0053, RW_0195, RW_0341, RW_0605, RW_0200, RW_0186, RW_0335, RW_0589, RW_0621, RW_0031, RW_0014, RW_0057, RW_0084, RW_0213

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)

esv2760808

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	48
Observed Complex	0
Frequency	n/a