Variant Details

Variant: esv2760196

Internal ID

10376504

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:61174254..61192925	hg38	UCSC Ensembl
Inner	chr11:60941726..60960397	hg19	UCSC Ensembl
Inner	chr11:60698302..60716973	hg18	UCSC Ensembl

Cytoband

11q12.2

Allele length

Assembly	Allele length
hg38	18672
hg19	18672
hg18	18672

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7020067, essv7020054, essv7020051, essv7020071, essv7020052, essv7020064, essv7020042, essv7020060, essv7020059, essv7020056, essv7020045, essv7020041, essv7020053, essv7020075, essv7020062, essv7020050, essv7020070, essv7020072, essv7020076, essv7020058, essv7020069, essv7020073, essv7020048, essv7020047, essv7020061, essv7020040, essv7020074, essv7020068, essv7020065, essv7020063, essv7020057, essv7020046, essv7020043, essv7020049

Samples

RW_0123, RW_0071, RW_0178, RW_0141, RW_0189, RW_0022, RW_0511, RW_0551, RW_0271, RW_0624, RW_0357, RW_0570, RW_0114, RW_0023, RW_0061, RW_0596, RW_0655, RW_0257, RW_0129, RW_0607, RW_0251, RW_0571, RW_0106, RW_0231, RW_0513, RW_0331, RW_0186, RW_0275, RW_0070, RW_0518, RW_0033, RW_0060, RW_0532, RW_0047

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)

esv2760196

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	34
Observed Complex	0
Frequency	n/a