Variant Details

Variant: esv2714098

Internal ID

9948382

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr16:23899548..23899886	hg38	UCSC Ensembl
Outer	chr16:23910869..23911207	hg19	UCSC Ensembl

Cytoband

16p12.2

Allele length

Assembly	Allele length
hg38	339
hg19	339

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6960121, essv6812574, essv6940847, essv6717288, essv6779942, essv6928332, essv6932371, essv6800739, essv6895088, essv6713419, essv6702952, essv6820281, essv6857990, essv6815866, essv6732611, essv6831790, essv6900995, essv6806752, essv6945513, essv6949591, essv6768880, essv6942973, essv6788264, essv6870154, essv6688675, essv6776160, essv6824115, essv6882688, essv6924847, essv6709896, essv6699079, essv6690488, essv6728766, essv6809760, essv6828200, essv6871097, essv6665480, essv6862995, essv6851999, essv6867782, essv6741987, essv6673963, essv6685500, essv6975350, essv6891683, essv6879833, essv6706642, essv6888375, essv6846339, essv6835334, essv6792349, essv6678311, essv6909350, essv6721164, essv6784073, essv6692004

Samples

SSM100, SSM036, SSM024, SSM075, SSM046, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM005, SSM080, SSM077, SSM076, SSM022, SSM070, SSM034, SSM004, SSM043, SSM098

Known Genes

PRKCB

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)

esv2714098

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	56
Observed Complex	0
Frequency	n/a