Variant Details

Variant: esv2718311

Internal ID

9952602

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr19:20336908..20619688	hg38	UCSC Ensembl
Outer	chr19:20447717..20802494	hg19	UCSC Ensembl

Cytoband

19p12

Allele length

Assembly	Allele length
hg38	282781
hg19	354778

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6745909, essv6666533, essv6971920, essv6852781, essv6668717, essv6733159, essv6750369, essv6753284, essv6666420, essv6898356, essv6824638, essv6781277, essv6753283, essv6820862, essv6947507, essv6898357, essv6814166, essv6960977, essv6769251, essv6773117, essv6666421, essv6928776, essv6832274, essv6858745, essv6781043, essv6921325, essv6921324, essv6747558, essv6717823, essv6820864, essv6954337, essv6773116, essv6820863, essv6902224, essv6905820, essv6741878, essv6877433, essv6781266, essv6693920, essv6758862, essv6846711, essv6947518, essv6776663, essv6913658, essv6858740, essv6843514, essv6960980, essv6937309, essv6824637, essv6780932, essv6967463, essv6666423, essv6874425, essv6733160, essv6917106, essv6776664, essv6745920, essv6682531, essv6693909, essv6967465, essv6820865, essv6816310, essv6682533

Samples

SSM059, SSM008, SSM027, SSM064, SSM079, SSM065, SSM087, SSM013, SSM009, SSM057, SSM028, SSM092, SSM084, SSM021, SSM047, SSM029, SSM026, SSM017, SSM019, SSM003, SSM001, SSM086, SSM033, SSM066, SSM085, SSM081, SSM007, SSM015, SSM078, SSM016, SSM005, SSM077, SSM091, SSM055, SSM025, SSM004, SSM099, SSM043, SSM052, SSM056, SSM030, SSM012

Known Genes

MIR1270-1, MIR1270-2, ZNF737, ZNF826P

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)

esv2718311

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	42
Observed Complex	0
Frequency	n/a