Variant Details

Variant: esv2760184

Internal ID

10376492

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:38432342..38449121	hg38	UCSC Ensembl
Inner	chr11:38453892..38470671	hg19	UCSC Ensembl
Inner	chr11:38410468..38427247	hg18	UCSC Ensembl

Cytoband

11p12

Allele length

Assembly	Allele length
hg38	16780
hg19	16780
hg18	16780

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7019794, essv7019787, essv7019779, essv7019792, essv7019763, essv7019791, essv7019777, essv7019764, essv7019770, essv7019771, essv7019793, essv7019776, essv7019772, essv7019760, essv7019775, essv7019783, essv7019785, essv7019773, essv7019780, essv7019774, essv7019769, essv7019762, essv7019795, essv7019768, essv7019765, essv7019786, essv7019781, essv7019761, essv7019788, essv7019784, essv7019790, essv7019766, essv7019782

Samples

RW_0123, RW_0203, RW_0526, RW_0345, RW_0075, RW_0595, RW_0187, RW_0134, RW_0319, RW_0551, RW_0271, RW_0503, RW_0218, RW_0502, RW_0131, RW_0558, RW_0324, RW_0321, RW_0349, RW_0346, RW_0001, RW_0222, RW_0523, RW_0042, RW_0564, RW_0331, RW_0190, RW_0275, RW_0273, RW_0110, RW_0063, RW_0018, 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)

esv2760184

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	33
Observed Complex	0
Frequency	n/a