Variant Details

Variant: esv2760965

Internal ID

10377272

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:238486457..238620731	hg38	UCSC Ensembl
Inner	chr1:238649757..238784031	hg19	UCSC Ensembl
Inner	chr1:236716380..236850654	hg18	UCSC Ensembl

Cytoband

1q43

Allele length

Assembly	Allele length
hg38	134275
hg19	134275
hg18	134275

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7005933, essv7005944

Samples

SW_1057, SW_1309

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)

esv2760965

Frequency

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