Variant Details

Variant: esv2762521

Internal ID

10029871

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:241727738..241910920	hg38	UCSC Ensembl
Inner	chr1:241891040..242074222	hg19	UCSC Ensembl
Inner	chr1:239957663..240140845	hg18	UCSC Ensembl

Cytoband

1q43

Allele length

Assembly	Allele length
hg38	183183
hg19	183183
hg18	183183

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7005989, essv7005978

Samples

SW_0631, SW_0569

Known Genes

EXO1, WDR64

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)

esv2762521

Frequency

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