Variant Details

Variant: esv2761235

Internal ID

10377542

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:101600851..101633831	hg38	UCSC Ensembl
Inner	chr8:102613079..102646059	hg19	UCSC Ensembl
Inner	chr8:102682255..102715235	hg18	UCSC Ensembl

Cytoband

8q22.3

Allele length

Assembly	Allele length
hg38	32981
hg19	32981
hg18	32981

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7017109, essv7017120, essv7017090, essv7017119, essv7017104, essv7017117, essv7017106, essv7017123, essv7017097, essv7017102, essv7017096, essv7017087, essv7017083, essv7017084, essv7017118, essv7017092, essv7017082, essv7017091, essv7017099, essv7017098, essv7017115, essv7017110, essv7017103, essv7017113, essv7017094, essv7017081, essv7017085, essv7017107, essv7017093, essv7017116, essv7017086, essv7017080, essv7017112, essv7017108, essv7017114, essv7017105, essv7017101, essv7017088, essv7017095, essv7017121

Samples

RW_0356, RW_0087, RW_0348, RW_0610, RW_0538, RW_0359, RW_0180, RW_0188, RW_0202, RW_0179, RW_0062, RW_0358, RW_0017, RW_0074, RW_0592, RW_0023, RW_0118, RW_0575, RW_0171, RW_0005, RW_0601, RW_0054, RW_0257, RW_0020, RW_0251, RW_0053, RW_0106, RW_0663, RW_0562, RW_0190, RW_0275, RW_0132, RW_0220, RW_0621, RW_0128, RW_0599, RW_0183, RW_0613, RW_0223, RW_0266

Known Genes

GRHL2

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)

esv2761235

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	40
Observed Complex	0
Frequency	n/a