Variant Details

Variant: esv2761285

Internal ID

10028647

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:114049617..114340988	hg38	UCSC Ensembl
Inner	chr9:116811897..117103268	hg19	UCSC Ensembl
Inner	chr9:115851718..116143089	hg18	UCSC Ensembl

Cytoband

9q32

Allele length

Assembly	Allele length
hg38	291372
hg19	291372
hg18	291372

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7018070, essv7018069

Samples

RW_0634, RW_0626

Known Genes

AKNA, AMBP, COL27A1, KIF12, MIR455, ORM1, ORM2, ZNF618

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)

esv2761285

Frequency

Sample Size	1109
Observed Gain	2
Observed Loss	0
Observed Complex	0
Frequency	n/a