Variant Details

Variant: esv2760723

Internal ID

10377030

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:42488897..42570693	hg38	UCSC Ensembl
Inner	chr22:42884903..42966699	hg19	UCSC Ensembl
Inner	chr22:41214847..41296643	hg18	UCSC Ensembl

Cytoband

22q13.2

Allele length

Assembly	Allele length
hg38	81797
hg19	81797
hg18	81797

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv101e203

Supporting Variants

essv7027018, essv7026996, essv7027004, essv7026999, essv7027026, essv7027006, essv7026988, essv7027020, essv7027016, essv7027005, essv7027009, essv7026998, essv7027010, essv7027025, essv7027017, essv7027027, essv7027013, essv7026990, essv7027001, essv7026991, essv7027012, essv7027015, essv7026992, essv7027021, essv7027002, essv7027023, essv7027014, essv7027007, essv7026986, essv7026994, essv7026987, essv7027008, essv7027024, essv7026997, essv7026995, essv7026993, essv7027019, essv7027003

Samples

RW_0203, RW_0636, RW_0292, RW_0553, RW_0329, RW_0105, RW_0196, RW_0099, RW_0075, RW_0090, RW_0658, RW_0181, RW_0510, RW_0271, RW_0062, RW_0131, RW_0017, RW_0544, RW_0272, RW_0324, RW_0567, RW_0176, RW_0299, RW_0587, RW_0251, RW_0210, RW_0008, RW_0053, RW_0190, RW_0589, RW_0581, RW_0209, RW_0144, RW_0184, RW_0057, RW_0041, RW_0594, RW_0047

Known Genes

RRP7A, SERHL, SERHL2

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)

esv2760723

Frequency

Sample Size	1109
Observed Gain	36
Observed Loss	2
Observed Complex	0
Frequency	n/a