Variant Details

Variant: esv2747018

Internal ID

10327988

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr1:36957294..36959816	hg38	UCSC Ensembl
Outer	chr1:37422895..37425417	hg19	UCSC Ensembl

Cytoband

1p34.3

Allele length

Assembly	Allele length
hg38	2523
hg19	2523

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv19e201

Supporting Variants

essv6917465, essv6877679, essv6853270, essv6885998, essv6910075, essv6725869, essv6793317, essv6941813, essv6807389, essv6914017, essv6816932, essv6816611, essv6773458, essv6950589, essv6863980, essv6813189, essv6789182, essv6679195, essv6761873, essv6668985, essv6816609, essv6863979, essv6847051, essv6929088, essv6710613, essv6929089, essv6675221, essv6853269, essv6797473, essv6718180, essv6914019, essv6759071, essv6692799, essv6785013, essv6950451, essv6821201, essv6843915, essv6937702, essv6929087, essv6803376, essv6785014, essv6729649, essv6692800, essv6871735, essv6972394, essv6853271, essv6773459, essv6898625, essv6967961, essv6829030, essv6937703, essv6801635, essv6776959, essv6941812, essv6668986, essv6695865, essv6972393, essv6769551, essv6750627, essv6925713

Samples

SSM100, SSM071, SSM075, SSM046, SSM079, SSM065, SSM087, SSM073, SSM093, SSM042, SSM002, SSM057, SSM023, SSM028, SSM047, SSM069, SSM061, SSM029, SSM096, SSM062, SSM089, SSM017, SSM019, SSM032, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM072, SSM020, SSM015, SSM078, SSM016, SSM037, SSM077, SSM022, SSM010, SSM091, SSM070, SSM025, SSM004

Known Genes

GRIK3

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)

esv2747018

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	46
Observed Complex	0
Frequency	n/a