Variant Details

Variant: esv2723099

Internal ID

10306735

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr21:10788662..10790624	hg38	UCSC Ensembl
Outer	chr21:10721833..10723795	hg19	UCSC Ensembl

Cytoband

21p11.2

Allele length

Assembly	Allele length
hg38	1963
hg19	1963

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv690e201

Supporting Variants

essv6703718, essv6892207, essv6905998, essv6699504, essv6863814, essv6836044, essv6686060, essv6710484, essv6784841, essv6917292, essv6793148, essv6804320, essv6689164, essv6816469, essv6868611, essv6839838, essv6901512, essv6868612, essv6961305, essv6714106, essv6883173, essv6824841, essv6679017, essv6885892, essv6675044, essv6853046, essv6725704, essv6875720, essv6863813, essv6686059, essv6972141, essv6729484, essv6888904, essv6696885, essv6913867, essv6801500, essv6898512, essv6692626, essv6679019, essv6972140, essv6967735, essv6859014, essv6679016, essv6780711, essv6721862, essv6880336, essv6946335, essv6946336, essv6832451, essv6810255, essv6828877, essv6909926, essv6950401, essv6813082, essv6895734, essv6789003, essv6797310

Samples

SSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM042, SSM088, SSM041, SSM023, SSM028, SSM069, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM081, SSM072, SSM082, SSM015, SSM016, SSM080, SSM037, SSM077, SSM076, SSM070, SSM095, SSM034, SSM099, SSM098

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)

esv2723099

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	50
Observed Complex	0
Frequency	n/a