Variant Details

Variant: dgv731e201

Internal ID

18984370

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr22:25231138..25584678	hg38	UCSC Ensembl
	chr22:25627105..25980645	hg19	UCSC Ensembl

Cytoband

22q11.23

Allele length

Assembly	Allele length
hg38	353541
hg19	353541

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2724081, esv2724085

Samples

SSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM071, SSM016, SSM057, SSM001, SSM024, SSM045, SSM067, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080

Known Genes

ADRBK2, CRYBB2, CRYBB2P1, IGLL3P, LRP5L, MIR6817

Method

Sequencing

Analysis

Breakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads

Platform

Illumina HiSeq 2000

Comments

Reference

Wong_et_al_2012b

Pubmed ID

23290073

Accession Number(s)

dgv731e201

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	89
Observed Complex	0
Frequency	n/a