Variant Details

Variant: esv2760608

Internal ID

10376915

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:77563473..77606619	hg38	UCSC Ensembl
Inner	chr2:77790599..77833745	hg19	UCSC Ensembl
Inner	chr2:77644107..77687253	hg18	UCSC Ensembl

Cytoband

2p12

Allele length

Assembly	Allele length
hg38	43147
hg19	43147
hg18	43147

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7007706, essv7007705, essv7007702, essv7007707, essv7007703, essv7007704, essv7007708

Samples

RW_0169, RW_0614, RW_0570, RW_0558, RW_0643, RW_0195, RW_0186

Known Genes

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)

esv2760608

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	7
Observed Complex	0
Frequency	n/a