Variant Details

Variant: esv2760875

Internal ID

10377182

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:157805876..157823440	hg38	UCSC Ensembl
Inner	chr4:158727028..158744592	hg19	UCSC Ensembl
Inner	chr4:158946478..158964042	hg18	UCSC Ensembl

Cytoband

4q32.1

Allele length

Assembly	Allele length
hg38	17565
hg19	17565
hg18	17565

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7012103, essv7012083, essv7012088, essv7012098, essv7012074, essv7012107, essv7012091, essv7012101, essv7012105, essv7012086, essv7012097, essv7012093, essv7012076, essv7012096, essv7012081, essv7012069, essv7012073, essv7012090, essv7012084, essv7012094, essv7012075, essv7012102, essv7012092, essv7012082, essv7012095, essv7012085, essv7012099, essv7012080, essv7012068, essv7012087, essv7012079, essv7012072, essv7012104, essv7012071, essv7012070, essv7012106

Samples

RW_0169, RW_0039, RW_0101, RW_0146, RW_0205, RW_0179, RW_0549, RW_0131, RW_0269, RW_0519, RW_0602, RW_0643, RW_0619, RW_0531, RW_0596, RW_0530, RW_0029, RW_0310, RW_0252, RW_0524, RW_0106, RW_0068, RW_0507, RW_0021, RW_0200, RW_0284, RW_0045, RW_0183, RW_0170, RW_0014, RW_0144, RW_0167, RW_0508, RW_0550, RW_0084, RW_0630

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)

esv2760875

Frequency

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