Variant Details

Variant: esv2763010

Internal ID

10377721

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:40828833..40875041	hg38	UCSC Ensembl
Inner	chr19:41334738..41380946	hg19	UCSC Ensembl
Inner	chr19:46026578..46072786	hg18	UCSC Ensembl

Cytoband

19q13.2

Allele length

Assembly	Allele length
hg38	46209
hg19	46209
hg18	46209

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7003414, essv7003407, essv7003395, essv7003413, essv7003396, essv7003420, essv7003391, essv7003408, essv7003417, essv7003405, essv7003409, essv7003399, essv7003401, essv7003402, essv7003419, essv7003421, essv7003424, essv7003398, essv7003392, essv7003403, essv7003422, essv7003393, essv7003410, essv7003404, essv7003415, essv7003397, essv7003418, essv7003394, essv7003406, essv7003416

Samples

SW_1021, SW_1056, SW_0063, SW_1425, SW_0801, SW_1132, SW_0115, SW_0570, SW_0353, SW_1512, SW_0099, SW_0818, SW_1121, SW_0786, SW_1282, SW_1134, SW_0268, SW_0761, SW_1198, SW_1130, SW_1182, SW_1265, SW_1062, SW_1517, SW_0606, SW_0001, SW_1180, SW_1128, SW_1175, SW_0197

Known Genes

CYP2A6

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)

esv2763010

Frequency

Sample Size	1109
Observed Gain	4
Observed Loss	26
Observed Complex	0
Frequency	n/a