Variant Details

Variant: esv2762399

Internal ID

10375197

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:35349487..35441180	hg38	UCSC Ensembl
Inner	chr17:33676506..33768199	hg19	UCSC Ensembl
Inner	chr17:30700619..30792312	hg18	UCSC Ensembl

Cytoband

17q12

Allele length

Assembly	Allele length
hg38	91694
hg19	91694
hg18	91694

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7001871, essv7001872, essv7001873, essv7001867, essv7001870, essv7001869

Samples

SW_1234, SW_0889, SW_1337, SW_1275, SW_1008, SW_1392

Known Genes

SLFN11, SLFN12, SLFN13

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)

esv2762399

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	6
Observed Complex	0
Frequency	n/a