Variant Details

Variant: esv2764116

Internal ID

10031466

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:15542279..15555938	hg38	UCSC Ensembl
Inner	chr8:15399788..15413447	hg19	UCSC Ensembl
Inner	chr8:15444159..15457818	hg18	UCSC Ensembl

Cytoband

8p22

Allele length

Assembly	Allele length
hg38	13660
hg19	13660
hg18	13660

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv155e203

Supporting Variants

essv6992734, essv6992718, essv6992726, essv6992730, essv6992740, essv6992719, essv6992741, essv6992742, essv6992731, essv6992737, essv6992728, essv6992720, essv6992721, essv6992725, essv6992729, essv6992743, essv6992727, essv6992736, essv6992735, essv6992717, essv6992723, essv6992724, essv6992716, essv6992739, essv6992738, essv6992732

Samples

SW_1451, SW_1027, SW_1365, SW_1409, SW_0341, SW_0191, SW_0086, SW_1447, SW_0033, SW_0815, SW_0759, SW_0085, SW_0552, SW_1527, SW_1323, SW_0021, SW_1179, SW_1103, SW_0183, SW_0659, SW_0653, SW_1346, SW_1116, SW_1551, SW_1209, SW_0241

Known Genes

TUSC3

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)

esv2764116

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	26
Observed Complex	0
Frequency	n/a