Variant Details

Variant: esv2748495

Internal ID

9982779

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr14:24607596..24632432	hg38	UCSC Ensembl
Outer	chr14:25076802..25101638	hg19	UCSC Ensembl

Cytoband

14q12

Allele length

Assembly	Allele length
hg38	24837
hg19	24837

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6905138, essv6720951, essv6800493, essv6788038, essv6783827, essv6668340, essv6920470, essv6737264, essv6685312, essv6891495, essv6842703, essv6928138, essv6755763, essv6796289, essv6768696, essv6966214, essv6792118, essv6940605, essv6910240, essv6752749, essv6717059, essv6712610, essv6941084, essv6879660, essv6775945, essv6724739, essv6924587, essv6862690, essv6897827, essv6681835, essv6749863, essv6706431, essv6912859, essv6744201, essv6741299, essv6765913, essv6885246, essv6732384, essv6831565, essv6772327, essv6916352, essv6836587, essv6901561, essv6763538, essv6936425, essv6688866, essv6820013, essv6857611, essv6949352, essv6846146, essv6823892, essv6812402, essv6870908, essv6945243

Samples

SSM071, SSM027, SSM024, SSM045, SSM064, SSM079, SSM065, SSM087, SSM097, SSM013, SSM093, SSM088, SSM002, SSM057, SSM023, SSM058, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM062, SSM017, SSM019, SSM003, SSM044, SSM001, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM015, SSM078, SSM016, SSM053, SSM005, SSM076, SSM022, SSM010, SSM070, SSM095, SSM034, SSM099, SSM043, SSM052, SSM056, SSM030, SSM063, SSM012

Known Genes

GZMB, GZMH

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)

esv2748495

Frequency

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