Variant Details

Variant: esv2722484

Internal ID

9956784

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr1:212297792..212299294	hg38	UCSC Ensembl
Outer	chr1:212471134..212472636	hg19	UCSC Ensembl

Cytoband

1q32.3

Allele length

Assembly	Allele length
hg38	1503
hg19	1503

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6845310, essv6821342, essv6781045, essv6853481, essv6844022, essv6906267, essv6710740, essv6692946, essv6736108, essv6745072, essv6925843, essv6750738, essv6886104, essv6813306, essv6747919, essv6759190, essv6933473, essv6789323, essv6753639, essv6696887, essv6817998, essv6871848, essv6868850, essv6718310, essv6807515, essv6689405, essv6738972, essv6675363, essv6680820, essv6889150, essv6666992, essv6729781, essv6880549, essv6756670, essv6704001, essv6968108, essv6955002, essv6910214, essv6864158, essv6883381, essv6786076, essv6766673, essv6722152, essv6785157, essv6825147, essv6686293, essv6714406, essv6847283, essv6859382, essv6793468, essv6898746, essv6877789, essv6804545, essv6726008, essv6917601

Samples

SSM100, SSM059, SSM036, SSM071, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM087, SSM097, SSM009, SSM093, SSM050, SSM074, SSM042, SSM088, SSM057, SSM058, SSM028, SSM090, SSM021, SSM047, SSM069, SSM061, SSM096, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM044, SSM001, SSM014, SSM086, SSM006, SSM085, SSM068, SSM040, SSM015, SSM080, SSM037, SSM077, SSM010, SSM091, SSM055, SSM070, SSM095, SSM043, SSM052, SSM056, SSM030

Known Genes

PPP2R5A

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)

esv2722484

Frequency

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