Variant Details

Variant: esv2720206

Internal ID

9954502

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr1:184845566..184851663	hg38	UCSC Ensembl
Outer	chr1:184814700..184820797	hg19	UCSC Ensembl

Cytoband

1q25.3

Allele length

Assembly	Allele length
hg38	6098
hg19	6098

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6714375, essv6759167, essv6954959, essv6933438, essv6764263, essv6670277, essv6756651, essv6742257, essv6669167, essv6847234, essv6729751, essv6825122, essv6813283, essv6829129, essv6697086, essv6951374, essv6917829, essv6868824, essv6686261, essv6801730, essv6843996, essv6725990, essv6761939, essv6753621, essv6719843, essv6864126, essv6679306, essv6914106, essv6789289, essv6710715, essv6941938, essv6675334, essv6883352, essv6895956, essv6898723, essv6738936, essv6750715, essv6889133, essv6877932, essv6917570, essv6906237, essv6745051, essv6682945, essv6733588, essv6797588, essv6807491, essv6910184, essv6804519, essv6874815, essv6886084, essv6696676, essv6703967, essv6781015, essv6766655, essv6925814

Samples

SSM007, SSM092, SSM053, SSM086, SSM006, SSM055, SSM033, SSM061, SSM099, SSM042, SSM040, SSM043, SSM089, SSM090, SSM064, SSM031, SSM035, SSM072, SSM016, SSM057, SSM032, SSM097, SSM077, SSM062, SSM005, SSM012, SSM100, SSM085, SSM017, SSM003, SSM095, SSM047, SSM073, SSM021, SSM034, SSM063, SSM038, SSM046, SSM019, SSM096, SSM023, SSM052, SSM068, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM058, SSM059, SSM081, SSM070, SSM080

Known Genes

FAM129A

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)

esv2720206

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	55
Observed Complex	0
Frequency	n/a