Variant Details

Variant: esv2748794

Internal ID

9983078

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr14:65513994..65514549	hg38	UCSC Ensembl
Outer	chr14:65980712..65981267	hg19	UCSC Ensembl

Cytoband

14q23.3

Allele length

Assembly	Allele length
hg38	556
hg19	556

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6897849, essv6779734, essv6857662, essv6772350, essv6945269, essv6738598, essv6842726, essv6862728, essv6959763, essv6846173, essv6888224, essv6916380, essv6717085, essv6941318, essv6835145, essv6775968, essv6894910, essv6706461, essv6720974, essv6828004, essv6831593, essv6868331, essv6713248, essv6901593, essv6867519, essv6882541, essv6932164, essv6966271, essv6809607, essv6900837, essv6912890, essv6732420, essv6973461, essv6953532, essv6971140, essv6740442, essv6792149, essv6905169, essv6728593, essv6796316, essv6876885, essv6800529, essv6803692, essv6879682, essv6940638, essv6673639, essv6709738, essv6808298, essv6838891, essv6783855, essv6928166, essv6920500, essv6870934

Samples

SSM100, SSM083, SSM071, SSM027, SSM075, SSM046, SSM011, SSM065, SSM087, SSM013, SSM009, SSM073, SSM093, SSM042, SSM088, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM047, SSM096, SSM026, SSM089, SSM017, SSM019, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM080, SSM022, SSM070, SSM025, SSM004, SSM099, SSM043, SSM098, SSM012

Known Genes

FUT8

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)

esv2748794

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	53
Observed Complex	0
Frequency	n/a