Variant Details

Variant: esv2760851

Internal ID

10377158

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:76243396..76263991	hg38	UCSC Ensembl
Inner	chr4:77164549..77185144	hg19	UCSC Ensembl
Inner	chr4:77383573..77404168	hg18	UCSC Ensembl

Cytoband

4q21.1

Allele length

Assembly	Allele length
hg38	20596
hg19	20596
hg18	20596

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7011284, essv7011258, essv7011289, essv7011269, essv7011283, essv7011282, essv7011285, essv7011262, essv7011290, essv7011257, essv7011263, essv7011256, essv7011275, essv7011259, essv7011253, essv7011281, essv7011267, essv7011268, essv7011265, essv7011276, essv7011260, essv7011280, essv7011279, essv7011271, essv7011254, essv7011278, essv7011270, essv7011252, essv7011287, essv7011274, essv7011264, essv7011286, essv7011251, essv7011273, essv7011272, essv7011261

Samples

RW_0071, RW_0583, RW_0148, RW_0030, RW_0075, RW_0090, RW_0312, RW_0555, RW_0658, RW_0254, RW_0137, RW_0522, RW_0631, RW_0324, RW_0575, RW_0619, RW_0253, RW_0608, RW_0552, RW_0286, RW_0611, RW_0155, RW_0530, RW_0664, RW_0653, RW_0092, RW_0056, RW_0578, RW_0036, RW_0073, RW_0235, RW_0190, RW_0284, RW_0627, RW_0277, RW_0535

Known Genes

FAM47E, FAM47E-STBD1

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)

esv2760851

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	36
Observed Complex	0
Frequency	n/a