Variant Details

Variant: esv2749064

Internal ID

10330034

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr14:96708482..96709791	hg38	UCSC Ensembl
Outer	chr14:97174819..97176128	hg19	UCSC Ensembl

Cytoband

14q32.2

Allele length

Assembly	Allele length
hg38	1310
hg19	1310

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv270e201

Supporting Variants

essv6691873, essv6966310, essv6774986, essv6945300, essv6763569, essv6788086, essv6932188, essv6916395, essv6720997, essv6815726, essv6905199, essv6977812, essv6857707, essv6678136, essv6966309, essv6673684, essv6945299, essv6796335, essv6971172, essv6775991, essv6828027, essv6941551, essv6738117, essv6761183, essv6688527, essv6744244, essv6815725, essv6713260, essv6900856, essv6800555, essv6920524, essv6838908, essv6792178, essv6953560, essv6678135, essv6768740, essv6867547, essv6717107, essv6749903, essv6740564, essv6835170, essv6862765, essv6728615, essv6894934, essv6870958, essv6796336, essv6772379, essv6732442, essv6823949, essv6851713, essv6724782, essv6820079, essv6928188, essv6891542, essv6940659

Samples

SSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM097, SSM013, SSM050, SSM042, SSM088, SSM023, SSM028, SSM090, SSM047, SSM069, SSM061, SSM029, SSM062, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM044, SSM086, SSM066, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM080, SSM077, SSM022, SSM070, SSM025, SSM043, SSM098, SSM056

Known Genes

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)

esv2749064

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	50
Observed Complex	0
Frequency	n/a