Variant Details

Variant: essv7007162

Internal ID

9998709

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:248585893..248645256	hg38	UCSC Ensembl
Inner	chr1:248749194..248808557	hg19	UCSC Ensembl
Inner	chr1:246815817..246875180	hg18	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	59364
hg19	59364
hg18	59364

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2760083

Supporting Variants

Samples

RW_0509

Known Genes

OR2T10, OR2T11, OR2T35

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)

essv7007162

Frequency

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