Variant Details

Variant: esv2760383

Internal ID

10027746

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:34386576..34570522	hg38	UCSC Ensembl
Inner	chr15:34678777..34862723	hg19	UCSC Ensembl
Inner	chr15:32466069..32650015	hg18	UCSC Ensembl

Cytoband

15q14

Allele length

Assembly	Allele length
hg38	183947
hg19	183947
hg18	183947

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv43e203

Supporting Variants

essv7023239, essv7023206, essv7023229, essv7023240, essv7023218, essv7023210, essv7023223, essv7023241, essv7023195, essv7023192, essv7023213, essv7023209, essv7023242, essv7023194, essv7023231, essv7023201, essv7023216, essv7023219, essv7023187, essv7023234, essv7023217, essv7023191, essv7023238, essv7023198, essv7023236, essv7023193, essv7023224, essv7023221, essv7023202, essv7023214, essv7023204, essv7023226, essv7023208, essv7023228, essv7023196, essv7023203, essv7023220, essv7023212, essv7023230, essv7023197, essv7023199, essv7023243, essv7023205, essv7023207, essv7023190, essv7023215, essv7023232, essv7023227, essv7023237, essv7023225, essv7023235

Samples

RW_0348, RW_0553, RW_0152, RW_0178, RW_0606, RW_0270, RW_0312, RW_0560, RW_0226, RW_0586, RW_0098, RW_0255, RW_0525, RW_0136, RW_0544, RW_0230, RW_0592, RW_0522, RW_0272, RW_0659, RW_0224, RW_0637, RW_0143, RW_0065, RW_0576, RW_0505, RW_0552, RW_0175, RW_0043, RW_0140, RW_0078, RW_0527, RW_0521, RW_0032, RW_0235, RW_0335, RW_0273, RW_0045, RW_0183, RW_0627, RW_0079, RW_0028, RW_0033, RW_0191, RW_0508, RW_0266, RW_0336, RW_0139, RW_0344

Known Genes

GOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2

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)

esv2760383

Frequency

Sample Size	1109
Observed Gain	10
Observed Loss	39
Observed Complex	0
Frequency	n/a