Variant Details

Variant: esv2723033

Internal ID

10306669

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr21:9012361..9015185	hg38	UCSC Ensembl
Outer	chr21:9851194..9854018	hg19	UCSC Ensembl

Cytoband

21p11.2

Allele length

Assembly	Allele length
hg38	2825
hg19	2825

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6744852, essv6902399, essv6842997, essv6695031, essv6863798, essv6766460, essv6821045, essv6769405, essv6888900, essv6933152, essv6868595, essv6733367, essv6682717, essv6718165, essv6941624, essv6859004, essv6836028, essv6747684, essv6668321, essv6885883, essv6853029, essv6815943, essv6871615, essv6679012, essv6753418, essv6721850, essv6877588, essv6747453, essv6675033, essv6937523, essv6761778, essv6917284, essv6788989, essv6776800, essv6954552, essv6699501, essv6758973, essv6905993, essv6764109, essv6901502, essv6780706, essv6784830, essv6846869, essv6909915, essv6913858, essv6725697, essv6928938, essv6915885, essv6816460, essv6898507, essv6666742, essv6773321, essv6843756, essv6807271, essv6801490

Samples

SSM100, SSM059, SSM045, SSM064, SSM065, SSM087, SSM038, SSM013, SSM009, SSM074, SSM088, SSM002, SSM057, SSM092, SSM084, SSM090, SSM021, SSM047, SSM069, SSM061, SSM029, SSM096, SSM062, SSM089, SSM019, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM077, SSM022, SSM010, SSM055, SSM095, SSM025, SSM004, SSM099, SSM063, SSM012

Known Genes

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)

esv2723033

Frequency

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