Variant Details

Variant: esv2722009

Internal ID

10305645

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr2:241566588..241567927	hg38	UCSC Ensembl
Outer	chr2:242506003..242507342	hg19	UCSC Ensembl

Cytoband

2q37.3

Allele length

Assembly	Allele length
hg38	1340
hg19	1340

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6704278, essv6886338, essv6864589, essv6859797, essv6889446, essv6781413, essv6722587, essv6793815, essv6759422, essv6750980, essv6697346, essv6693336, essv6770039, essv6929623, essv6914401, essv6947004, essv6672832, essv6675693, essv6902998, essv6698799, essv6722477, essv6899013, essv6777433, essv6880779, essv6870819, essv6836655, essv6829466, essv6707696, essv6739268, essv6700168, essv6955618, essv6854007, essv6683250, essv6848253, essv6817175, essv6686557, essv6714729, essv6875091, essv6896191, essv6954228, essv6938176, essv6926110, essv6968493, essv6804801, essv6872100, essv6951074, essv6748146, essv6848265, essv6679660, essv6847823, essv6773910, essv6785546, essv6762135, essv6718627, essv6869092, essv6667139, essv6933836

Samples

SSM100, SSM083, SSM071, SSM024, SSM045, SSM011, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM074, SSM088, SSM041, SSM057, SSM028, SSM092, SSM090, SSM021, SSM069, SSM061, SSM096, SSM062, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM068, SSM081, SSM040, SSM020, SSM007, SSM078, SSM016, SSM005, SSM037, SSM022, SSM091, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM056, SSM030

Known Genes

BOK

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)

esv2722009

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	56
Observed Complex	0
Frequency	n/a