Variant Details

Variant: esv2718586

Internal ID

10302222

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr19:41896514..41896999	hg38	UCSC Ensembl
Outer	chr19:42400587..42401148	hg19	UCSC Ensembl

Cytoband

19q13.2

Allele length

Assembly	Allele length
hg38	486
hg19	562

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6797139, essv6947884, essv6746331, essv6839676, essv6776693, essv6932978, essv6954385, essv6807163, essv6666490, essv6895585, essv6824675, essv6773152, essv6694221, essv6946155, essv6905858, essv6682577, essv6703568, essv6937350, essv6971957, essv6828740, essv6780520, essv6888804, essv6733195, essv6917143, essv6769289, essv6961029, essv6692471, essv6835888, essv6801334, essv6874461, essv6713963, essv6750405, essv6871501, essv6967509, essv6784672, essv6921379, essv6898397, essv6832308, essv6810151, essv6717859, essv6666999, essv6846742, essv6747584, essv6761680, essv6950206, essv6902264, essv6696722, essv6852822, essv6729341, essv6725525, essv6674819, essv6868432, essv6941458, essv6883074

Samples

SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM065, SSM039, SSM013, SSM074, SSM042, SSM023, SSM028, SSM090, SSM021, SSM047, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM094, SSM003, SSM031, SSM067, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM016, SSM005, SSM080, SSM037, SSM022, SSM091, SSM055, SSM025, SSM004, SSM099, SSM043, SSM098, SSM056, SSM012

Known Genes

ARHGEF1

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)

esv2718586

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	54
Observed Complex	0
Frequency	n/a