Variant Details

Variant: esv2720413

Internal ID

9954709

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr2:96472591..96793459	hg38	UCSC Ensembl
Outer	chr2:97138328..97459196	hg19	UCSC Ensembl

Cytoband

2q11.2

Allele length

Assembly	Allele length
hg38	320869
hg19	320869

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6821520, essv6671854, essv6883506, essv6914275, essv6797827, essv6699997, essv6832907, essv6829322, essv6836527, essv6946837, essv6718497, essv6880669, essv6777281, essv6804684, essv6853757, essv6972976, essv6910414, essv6769873, essv6853756, essv6785374, essv6902854, essv6679520, essv6871985, essv6697909, essv6859584, essv6781931, essv6962098, essv6742408, essv6793670, essv6756782, essv6822043, essv6721421, essv6693164, essv6722329, essv6751697, essv6726192, essv6686441, essv6710926, essv6877913, essv6922107, essv6759317, essv6773772, essv6946836, essv6729958, essv6953040, essv6942202, essv6892639, essv6950913, essv6919762, essv6697235, essv6925992, essv6938039, essv6886237

Samples

SSM059, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM093, SSM074, SSM042, SSM088, SSM002, SSM023, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM019, SSM035, SSM094, SSM003, SSM067, SSM044, SSM001, SSM033, SSM066, SSM006, SSM081, SSM072, SSM082, SSM007, SSM015, SSM016, SSM053, SSM005, SSM037, SSM022, SSM091, SSM095, SSM025, SSM004, SSM098

Known Genes

ARID5A, CNNM4, FER1L5, KANSL3, LMAN2L, NEURL3

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)

esv2720413

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	51
Observed Complex	0
Frequency	n/a