Variant Details

Variant: esv2718558

Internal ID

10302194

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr19:40107114..40109869	hg38	UCSC Ensembl
Outer	chr19:40613021..40615776	hg19	UCSC Ensembl

Cytoband

19q13.2

Allele length

Assembly	Allele length
hg38	2756
hg19	2756

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6814565, essv6895582, essv6807161, essv6741910, essv6788838, essv6744737, essv6961023, essv6756348, essv6971954, essv6917136, essv6776689, essv6901404, essv6753315, essv6792946, essv6937344, essv6783154, essv6725519, essv6773147, essv6721696, essv6858792, essv6914819, essv6812967, essv6733189, essv6839671, essv6880237, essv6946147, essv6925376, essv6780515, essv6764024, essv6666944, essv6703563, essv6801328, essv6913699, essv6874531, essv6941450, essv6898393, essv6843550, essv6877454, essv6868425, essv6928802, essv6905855, essv6666481, essv6682571, essv6738637, essv6713959, essv6746253, essv6883070, essv6729336, essv6888798, essv6797135, essv6710348, essv6766362, essv6696714

Samples

SSM100, SSM083, SSM071, SSM045, SSM046, SSM011, SSM065, SSM087, SSM039, SSM013, SSM009, SSM093, SSM050, SSM074, SSM042, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM019, SSM094, SSM067, SSM044, SSM001, SSM033, SSM066, SSM072, SSM007, SSM015, SSM016, SSM053, SSM037, SSM076, SSM022, SSM070, SSM004, SSM099, SSM052, SSM098, SSM063

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)

esv2718558

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	53
Observed Complex	0
Frequency	n/a