Variant Details

Variant: esv2724683

Internal ID

10308319

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr1:230335104..230335643	hg38	UCSC Ensembl
Outer	chr1:230470850..230471389	hg19	UCSC Ensembl

Cytoband

1q42.13

Allele length

Assembly	Allele length
hg38	540
hg19	540

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6764303, essv6692974, essv6955038, essv6871865, essv6726028, essv6742297, essv6679355, essv6972679, essv6789352, essv6910237, essv6753659, essv6736126, essv6720253, essv6689425, essv6877804, essv6750755, essv6781068, essv6759204, essv6950745, essv6880569, essv6925854, essv6902718, essv6704016, essv6813323, essv6914133, essv6738992, essv6821362, essv6929253, essv6722180, essv6797645, essv6941997, essv6801769, essv6777109, essv6769711, essv6756680, essv6968131, essv6785178, essv6829175, essv6710756, essv6793495, essv6946668, essv6669248, essv6745085, essv6937857, essv6951840, essv6840136, essv6933498, essv6832751, essv6714423, essv6670687, essv6961841, essv6694153, essv6847319

Samples

SSM059, SSM036, SSM071, SSM027, SSM024, SSM045, SSM046, SSM079, SSM065, SSM013, SSM073, SSM093, SSM050, SSM042, SSM057, SSM023, SSM058, SSM028, SSM084, SSM021, SSM069, SSM061, SSM029, SSM026, SSM019, SSM094, SSM031, SSM067, SSM001, SSM086, SSM033, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM091, SSM055, SSM070, SSM025, SSM004, SSM043, SSM052, SSM063

Known Genes

PGBD5

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)

esv2724683

Frequency

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