Variant Details

Variant: esv2761999

Internal ID

10374797

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:60514913..60541170	hg38	UCSC Ensembl
Inner	chr16:60548817..60575074	hg19	UCSC Ensembl
Inner	chr16:59106318..59132575	hg18	UCSC Ensembl

Cytoband

16q21

Allele length

Assembly	Allele length
hg38	26258
hg19	26258
hg18	26258

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7001215, essv7001217, essv7001220, essv7001221, essv7001216, essv7001224, essv7001219, essv7001212, essv7001213, essv7001223, essv7001225, essv7001214, essv7001218

Samples

SW_1166, SW_0578, SW_1361, SW_0584, SW_1476, SW_1523, SW_1029, SW_1182, SW_1478, SW_1240, SW_0160, SW_1209, SW_0844

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)

esv2761999

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	13
Observed Complex	0
Frequency	n/a