Variant Details

Variant: esv2761112

Internal ID

10028474

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:140491738..140534771	hg38	UCSC Ensembl
Inner	chr7:140191538..140234571	hg19	UCSC Ensembl
Inner	chr7:139838007..139881040	hg18	UCSC Ensembl

Cytoband

7q34

Allele length

Assembly	Allele length
hg38	43034
hg19	43034
hg18	43034

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7015129, essv7015134, essv7015124, essv7015132, essv7015136, essv7015127, essv7015137, essv7015131, essv7015126, essv7015135, essv7015130, essv7015128, essv7015125

Samples

RW_0123, RW_0258, RW_0218, RW_0224, RW_0250, RW_0222, RW_0129, RW_0106, RW_0073, RW_0013, RW_0273, RW_0599, RW_0590

Known Genes

DENND2A

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)

esv2761112

Frequency

Sample Size	1109
Observed Gain	1
Observed Loss	12
Observed Complex	0
Frequency	n/a