Variant Details

Variant: esv2725540

Internal ID

9959846

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr1:236714618..236715367	hg38	UCSC Ensembl
Outer	chr1:236877918..236878667	hg19	UCSC Ensembl

Cytoband

1q43

Allele length

Assembly	Allele length
hg38	750
hg19	750

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6726037, essv6810483, essv6816828, essv6756684, essv6764310, essv6933507, essv6701931, essv6918351, essv6898774, essv6972697, essv6697130, essv6686324, essv6874861, essv6714431, essv6670798, essv6720309, essv6883399, essv6804570, essv6961854, essv6699806, essv6753667, essv6742305, essv6675393, essv6750760, essv6892497, essv6942004, essv6697065, essv6747939, essv6906303, essv6773630, essv6968137, essv6821373, essv6729811, essv6853526, essv6759207, essv6761966, essv6847333, essv6825186, essv6733627, essv6813330, essv6669263, essv6859426, essv6750198, essv6785182, essv6679367, essv6707433, essv6864196, essv6738999, essv6736130, essv6786364, essv6955055, essv6813931, essv6718344

Samples

SSM100, SSM059, SSM008, SSM027, SSM046, SSM079, SSM087, SSM038, SSM039, SSM009, SSM050, SSM074, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM021, SSM047, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM035, SSM032, SSM003, SSM031, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM007, SSM078, SSM053, SSM005, SSM080, SSM077, SSM076, SSM095, SSM043, SSM052, SSM098, SSM049, SSM056, SSM063

Known Genes

ACTN2

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)

esv2725540

Frequency

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