Variant Details

Variant: esv2761088

Internal ID

10028450

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:37463949..38827290	hg38	UCSC Ensembl
Inner	chr12:37857751..39221092	hg19	UCSC Ensembl
Inner	chr12:36144018..37507359	hg18	UCSC Ensembl

Cytoband

12q11

Allele length

Assembly	Allele length
hg38	1363342
hg19	1363342
hg18	1363342

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6997385, essv6997384, essv6997383, essv6997382, essv6997381

Samples

SW_0119, SW_1436, SW_1201, SW_1090

Known Genes

ALG10B, CPNE8

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)

esv2761088

Frequency

Sample Size	1109
Observed Gain	4
Observed Loss	0
Observed Complex	0
Frequency	n/a