Variant Details

Variant: esv2716502

Internal ID

9950790

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr17:82411362..82412304	hg38	UCSC Ensembl
Outer	chr17:80369238..80370180	hg19	UCSC Ensembl

Cytoband

17q25.3

Allele length

Assembly	Allele length
hg38	943
hg19	943

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6753081, essv6713661, essv6692225, essv6758700, essv6784361, essv6761482, essv6725238, essv6750174, essv6858338, essv6901989, essv6928563, essv6811933, essv6765487, essv6898172, essv6916836, essv6816086, essv6769069, essv6932689, essv6945809, essv6925068, essv6960545, essv6744518, essv6971624, essv6738405, essv6741674, essv6843236, essv6941155, essv6913366, essv6717575, essv6696360, essv6945052, essv6967010, essv6820534, essv6895314, essv6954050, essv6839887, essv6936988, essv6792636, essv6913096, essv6766185, essv6743998, essv6665936, essv6682279, essv6885570, essv6756104, essv6772832, essv6874214, essv6877234, essv6776416, essv6921009, essv6832029, essv6715465, essv6977262

Samples

SSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM053, SSM006, SSM036, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM078, SSM043, SSM064, SSM025, SSM020, SSM016, SSM057, SSM001, SSM045, SSM050, SSM077, SSM012, SSM056, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM095, SSM021, SSM002, SSM037, SSM063, SSM087, SSM019, SSM023, SSM052, SSM068, SSM004, SSM015, SSM026, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070

Known Genes

OGFOD3

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)

esv2716502

Frequency

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