Variant Details

Variant: esv2761205

Internal ID

10377512

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:32806787..32834852	hg38	UCSC Ensembl
Inner	chr8:32664305..32692370	hg19	UCSC Ensembl
Inner	chr8:32783847..32811912	hg18	UCSC Ensembl

Cytoband

8p12

Allele length

Assembly	Allele length
hg38	28066
hg19	28066
hg18	28066

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7016607, essv7016608

Samples

RW_0258, RW_0614

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)

esv2761205

Frequency

Sample Size	1109
Observed Gain	1
Observed Loss	1
Observed Complex	0
Frequency	n/a