Variant Details

Variant: esv2760937

Internal ID

10377244

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:45377176..46389171	hg38	UCSC Ensembl
Inner	chr5:45377278..46389273	hg19	UCSC Ensembl
Inner	chr5:45413035..46425030	hg18	UCSC Ensembl

Cytoband

5p11

Allele length

Assembly	Allele length
hg38	1011996
hg19	1011996
hg18	1011996

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7012753, essv7012756, essv7012775, essv7012762, essv7012774, essv7012768, essv7012772, essv7012763, essv7012761, essv7012776, essv7012769, essv7012764, essv7012754, essv7012760, essv7012758, essv7012759, essv7012765, essv7012773, essv7012767, essv7012752, essv7012770, essv7012757, essv7012771

Samples

RW_0620, RW_0069, RW_0582, RW_0354, RW_0096, RW_0503, RW_0216, RW_0539, RW_0545, RW_0637, RW_0002, RW_0515, RW_0257, RW_0092, RW_0564, RW_0507, RW_0273, RW_0229, RW_0627, RW_0057, RW_0266, RW_0573, RW_0041

Known Genes

HCN1

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)

esv2760937

Frequency

Sample Size	1109
Observed Gain	4
Observed Loss	19
Observed Complex	0
Frequency	n/a