Variant Details

Variant: essv7007038

Internal ID

10003201

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:247654789..248129868	hg38	UCSC Ensembl
Inner	chr1:247818091..248293170	hg19	UCSC Ensembl
Inner	chr1:245884714..246359793	hg18	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	475080
hg19	475080
hg18	475080

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2762235

Supporting Variants

Samples

RW_0624

Known Genes

OR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2T8, OR2W3, OR6F1, TRIM58

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)

essv7007038

Frequency

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