Variant Details

Variant: esv2721017

Internal ID

10304653

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr1:196766913..196776275	hg38	UCSC Ensembl
Outer	chr1:196736043..196745405	hg19	UCSC Ensembl

Cytoband

1q31.3

Allele length

Assembly	Allele length
hg38	9363
hg19	9363

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6929209, essv6917581, essv6817876, essv6714387, essv6745058, essv6954976, essv6892455, essv6821323, essv6781025, essv6669190, essv6722134, essv6703979, essv6946627, essv6968088, essv6773583, essv6666981, essv6750721, essv6801738, essv6696721, essv6753625, essv6675345, essv6836321, essv6844004, essv6950697, essv6941954, essv6898730, essv6895964, essv6797604, essv6961781, essv6917930, essv6769663, essv6764270, essv6864139, essv6777069, essv6877772, essv6810598, essv6933452, essv6886091, essv6738947, essv6670820, essv6692925, essv6878020, essv6813293, essv6807497, essv6921882, essv6689385, essv6847251, essv6733594, essv6853456, essv6707384, essv6697091, essv6759174, essv6761944, essv6880538, essv6874825, essv6686275

Samples

SSM100, SSM036, SSM083, SSM027, SSM024, SSM075, SSM045, SSM079, SSM065, SSM087, SSM038, SSM073, SSM093, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM021, SSM018, SSM061, SSM096, SSM062, SSM026, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM001, SSM086, SSM066, SSM006, SSM085, SSM068, SSM040, SSM072, SSM020, SSM037, SSM077, SSM010, SSM055, SSM025, SSM099, SSM043, SSM052, SSM098, SSM049, SSM030, SSM063, SSM012

Known Genes

CFHR3

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)

esv2721017

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	56
Observed Complex	0
Frequency	n/a