Variant Details

Variant: esv2746834

Internal ID

10327804

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr12:131330808..131331852	hg38	UCSC Ensembl
Outer	chr12:131815353..131816397	hg19	UCSC Ensembl

Cytoband

12q24.33

Allele length

Assembly	Allele length
hg38	1045
hg19	1045

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6939895, essv6809455, essv6755655, essv6687955, essv6796128, essv6695657, essv6959430, essv6936249, essv6677918, essv6920297, essv6912702, essv6752644, essv6900232, essv6800319, essv6873755, essv6806710, essv6741161, essv6779556, essv6838707, essv6773165, essv6706304, essv6953329, essv6803575, essv6772144, essv6970916, essv6691689, essv6885146, essv6835587, essv6823726, essv6746925, essv6783657, essv6739242, essv6728598, essv6894739, essv6931948, essv6916217, essv6831394, essv6806455, essv6928006, essv6775798, essv6758294, essv6728426, essv6904995, essv6949182, essv6945059, essv6815552, essv6744102, essv6924445, essv6846024, essv6897722, essv6977389, essv6724590, essv6713084, essv6749759

Samples

SSM059, SSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM079, SSM065, SSM013, SSM009, SSM073, SSM074, SSM042, SSM057, SSM023, SSM058, SSM028, SSM021, SSM018, SSM029, SSM026, SSM017, SSM019, SSM032, SSM003, SSM067, SSM001, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM037, SSM077, SSM010, SSM091, SSM055, SSM095, SSM025, SSM099, SSM052, SSM098, SSM056, SSM012

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)

esv2746834

Frequency

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