Variant Details

Variant: esv2727922

Internal ID

9962234

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr4:85643191..85643549	hg38	UCSC Ensembl
Outer	chr4:86564344..86564702	hg19	UCSC Ensembl

Cytoband

4q21.23

Allele length

Assembly	Allele length
hg38	359
hg19	359

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6957007, essv6962918, essv6922628, essv6884019, essv6774216, essv6947366, essv6851487, essv6938524, essv6711420, essv6973923, essv6860235, essv6785936, essv6725065, essv6956206, essv6693702, essv6926424, essv6869357, essv6708003, essv6730439, essv6781758, essv6865025, essv6686855, essv6837005, essv6833369, essv6929994, essv6802227, essv6886628, essv6683573, essv6718946, essv6676060, essv6844559, essv6883869, essv6690022, essv6670348, essv6848371, essv6893074, essv6790046, essv6899308, essv6813919, essv6704588, essv6805069, essv6968864, essv6896445, essv6825908, essv6881070, essv6878261, essv6700531, essv6697597, essv6810939, essv6808051, essv6906994, essv6722819, essv6767167, essv6903302, essv6794195, essv6822007, essv6854508

Samples

SSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM064, SSM079, SSM087, SSM038, SSM039, SSM013, SSM073, SSM093, SSM074, SSM042, SSM088, SSM041, SSM028, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM066, SSM085, SSM068, SSM040, SSM082, SSM020, SSM007, SSM080, SSM037, SSM077, SSM076, SSM022, SSM070, SSM095, SSM034, SSM004, SSM099, SSM098, SSM012

Known Genes

ARHGAP24

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)

esv2727922

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	57
Observed Complex	0
Frequency	n/a