Variant Details

Variant: esv2761921

Internal ID

10374719

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:38363372..38396870	hg38	UCSC Ensembl
Inner	chr15:38655573..38689071	hg19	UCSC Ensembl
Inner	chr15:36442865..36476363	hg18	UCSC Ensembl

Cytoband

15q14

Allele length

Assembly	Allele length
hg38	33499
hg19	33499
hg18	33499

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7000048, essv7000049

Samples

SW_1284, SW_0836

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)

esv2761921

Frequency

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