Variant Details

Variant: esv2731957

Internal ID

10315593

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr6:40098648..40134743	hg38	UCSC Ensembl
Outer	chr6:40066387..40102482	hg19	UCSC Ensembl

Cytoband

6p21.2

Allele length

Assembly	Allele length
hg38	36096
hg19	36096

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6930446, essv6915086, essv6676580, essv6782226, essv6678788, essv6961318, essv6923082, essv6849138, essv6841269, essv6957013, essv6926824, essv6822444, essv6730896, essv6896775, essv6786408, essv6969382, essv6795599, essv6745937, essv6739975, essv6794659, essv6701087, essv6896774, essv6761020, essv6782225, essv6715531, essv6786407, essv6728943, essv6974785, essv6875730, essv6761031, essv6855232, essv6963738, essv6748751, essv6893537, essv6711850, essv6849137, essv6887921, essv6723249, essv6855266, essv6790519, essv6671109, essv6934728, essv6893538, essv6697915, essv6767548, essv6798872, essv6770839, essv6727127, essv6947804, essv6872770, essv6939025, essv6671108, essv6802575, essv6939024, essv6951914, essv6694168

Samples

SSM008, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM039, SSM009, SSM073, SSM042, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM019, SSM032, SSM031, SSM086, SSM068, SSM072, SSM020, SSM007, SSM016, SSM005, SSM037, SSM022, SSM091, SSM055, SSM070, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM012

Known Genes

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)

esv2731957

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	48
Observed Complex	0
Frequency	n/a