Variant Details

Variant: esv2723318

Internal ID

10306954

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr21:29229445..29229838	hg38	UCSC Ensembl
Outer	chr21:30601766..30602159	hg19	UCSC Ensembl

Cytoband

21q21.3

Allele length

Assembly	Allele length
hg38	394
hg19	394

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6821070, essv6967774, essv6707194, essv6710497, essv6875975, essv6668600, essv6801524, essv6925589, essv6853082, essv6675079, essv6729515, essv6824863, essv6892224, essv6839853, essv6843789, essv6797330, essv6721883, essv6793174, essv6714130, essv6888930, essv6780740, essv6874629, essv6901534, essv6828901, essv6666787, essv6909955, essv6885915, essv6950430, essv6880360, essv6961339, essv6813097, essv6686078, essv6946370, essv6810279, essv6972177, essv6868633, essv6949385, essv6679051, essv6863833, essv6784864, essv6928965, essv6725734, essv6933189, essv6895760, essv6816492, essv6804340, essv6859056, essv6789022, essv6807303, essv6703742, essv6744879, essv6699520, essv6758990

Samples

SSM100, SSM059, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM073, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM028, SSM084, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM019, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM040, SSM072, SSM020, SSM078, SSM053, SSM080, SSM077, SSM076, SSM091, SSM070, SSM095, SSM034, SSM004, SSM098

Known Genes

LINC00189

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)

esv2723318

Frequency

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