Variant Details

Variant: esv2747287

Internal ID

10328257

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr13:39359973..39361527	hg38	UCSC Ensembl
Outer	chr13:39934110..39935664	hg19	UCSC Ensembl

Cytoband

13q13.3

Allele length

Assembly	Allele length
hg38	1555
hg19	1555

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6688143, essv6752666, essv6876779, essv6732270, essv6720818, essv6773542, essv6768619, essv6772211, essv6765858, essv6741201, essv6712010, essv6936299, essv6945102, essv6977489, essv6940497, essv6916264, essv6909551, essv6846063, essv6900621, essv6909012, essv6796163, essv6749785, essv6709623, essv6758319, essv6966030, essv6775834, essv6835887, essv6779591, essv6706339, essv6953381, essv6744125, essv6932001, essv6755681, essv6905033, essv6846062, essv6783704, essv6668294, essv6959509, essv6738002, essv6819871, essv6970971, essv6695713, essv6702596, essv6735291, essv6763482, essv6885177, essv6746949, essv6677961, essv6916261, essv6731375, essv6673380, essv6972451, essv6920357, essv6912753, essv6800368, essv6681718

Samples

SSM059, SSM008, SSM071, SSM027, SSM064, SSM065, SSM039, SSM013, SSM050, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM021, SSM047, SSM029, SSM062, SSM026, SSM017, SSM032, SSM031, SSM067, SSM044, SSM001, SSM014, SSM033, SSM066, SSM006, SSM085, SSM068, SSM040, SSM072, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM022, SSM010, SSM055, SSM095, SSM025, SSM004, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012

Known Genes

LHFP

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)

esv2747287

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	54
Observed Complex	0
Frequency	n/a