Variant Details

Variant: esv2721180

Internal ID

10304816

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr2:177351449..177351660	hg38	UCSC Ensembl
Outer	chr2:178216177..178216388	hg19	UCSC Ensembl

Cytoband

2q31.2

Allele length

Assembly	Allele length
hg38	212
hg19	212

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6847676, essv6829384, essv6955474, essv6892699, essv6926051, essv6832981, essv6898947, essv6793738, essv6704218, essv6859695, essv6700082, essv6906547, essv6745252, essv6804740, essv6739194, essv6883558, essv6718561, essv6810636, essv6889378, essv6707641, essv6877971, essv6679591, essv6872040, essv6968410, essv6817090, essv6669663, essv6789613, essv6797911, essv6813527, essv6847699, essv6946921, essv6675616, essv6785455, essv6773840, essv6922183, essv6726271, essv6777349, essv6825440, essv6880387, essv6929536, essv6942285, essv6973142, essv6910486, essv6938105, essv6742468, essv6853884, essv6693249, essv6781337, essv6722044, essv6864481, essv6730023, essv6672299, essv6962236, essv6880732, essv6807711

Samples

SSM100, SSM071, SSM027, SSM024, SSM075, SSM046, SSM011, SSM087, SSM097, SSM039, SSM093, SSM074, SSM088, SSM041, SSM023, SSM028, SSM047, SSM018, SSM069, SSM029, SSM026, SSM089, SSM019, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM052, SSM098, SSM012

Known Genes

LOC100130691

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)

esv2721180

Frequency

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