Variant Details

Variant: esv2764200

Internal ID

10031550

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:25266637..25336853	hg38	UCSC Ensembl
Inner	chr1:25593128..25663344	hg19	UCSC Ensembl
Inner	chr1:25465715..25535931	hg18	UCSC Ensembl

Cytoband

1p36.11

Allele length

Assembly	Allele length
hg38	70217
hg19	70217
hg18	70217

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7005230, essv7005269, essv7005263, essv7005248, essv7005259, essv7005268, essv7005252, essv7005253, essv7005231, essv7005243, essv7005238, essv7005265, essv7005242, essv7005251, essv7005254, essv7005241, essv7005247, essv7005232, essv7005274, essv7005246, essv7005244, essv7005266, essv7005255, essv7005275, essv7005264, essv7005235, essv7005258, essv7005272, essv7005240, essv7005233, essv7005271, essv7005237, essv7005273, essv7005236, essv7005261, essv7005260, essv7005257, essv7005250, essv7005239, essv7005249, essv7005262, essv7005270

Samples

RW_0123, RW_0220, RW_0325, RW_0042, RW_0129, RW_0587, RW_0502, RW_0310, RW_0168, RW_0624, RW_0018, RW_0173, RW_0571, RW_0664, RW_0152, RW_0049, RW_0158, RW_0088, RW_0209, RW_0068, RW_0106, RW_0216, RW_0253, RW_0023, RW_0171, RW_0227, RW_0064, RW_0550, RW_0564, RW_0132, RW_0241, RW_0615, RW_0072, RW_0017, RW_0568, RW_0025, RW_0513, RW_0554, RW_0053, RW_0254, RW_0079, RW_0190

Known Genes

RHD

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)

esv2764200

Frequency

Sample Size	1109
Observed Gain	6
Observed Loss	36
Observed Complex	0
Frequency	n/a