Variant Details

Variant: esv2760429

Internal ID

10376737

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:64041842..64080311	hg38	UCSC Ensembl
Inner	chr16:64075746..64114215	hg19	UCSC Ensembl
Inner	chr16:62633247..62671716	hg18	UCSC Ensembl

Cytoband

16q21

Allele length

Assembly	Allele length
hg38	38470
hg19	38470
hg18	38470

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7023919, essv7023922, essv7023925, essv7023920, essv7023918, essv7023924, essv7023923

Samples

RW_0635, RW_0181, RW_0147, RW_0308, RW_0073, RW_0543, RW_0110

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)

esv2760429

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	7
Observed Complex	0
Frequency	n/a