Variant Details

Variant: esv2721667

Internal ID

9955964

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr2:233713578..233729820	hg38	UCSC Ensembl
Outer	chr2:234622224..234638466	hg19	UCSC Ensembl

Cytoband

2q37.1

Allele length

Assembly	Allele length
hg38	16243
hg19	16243

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6878004, essv6864550, essv6962325, essv6675670, essv6840435, essv6917921, essv6788499, essv6920862, essv6770002, essv6697330, essv6922236, essv6797961, essv6973245, essv6679630, essv6667131, essv6933802, essv6859770, essv6840436, essv6953995, essv6821640, essv6762124, essv6739243, essv6880761, essv6892741, essv6711036, essv6804783, essv6968459, essv6910534, essv6707678, essv6726305, essv6955563, essv6872084, essv6789650, essv6906612, essv6853962, essv6902970, essv6962326, essv6917920, essv6869080, essv6700136, essv6829437, essv6693302, essv6929586, essv6889427, essv6764479, essv6942348, essv6896170, essv6718603, essv6722449, essv6669741, essv6785512, essv6759407, essv6847781, essv6736348

Samples

SSM027, SSM045, SSM046, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM023, SSM028, SSM084, SSM090, SSM021, SSM018, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM044, SSM014, SSM086, SSM033, SSM081, SSM072, SSM020, SSM015, SSM037, SSM091, SSM070, SSM004, SSM099, SSM052, SSM098, SSM030, SSM063

Known Genes

UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9

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)

esv2721667

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	51
Observed Complex	0
Frequency	n/a