Variant Details

Variant: esv2747035

Internal ID

10328005

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr12:132729978..132730623	hg38	UCSC Ensembl
Outer	chr12:133306564..133307209	hg19	UCSC Ensembl

Cytoband

12q24.33

Allele length

Assembly	Allele length
hg38	646
hg19	646

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6724609, essv6959459, essv6876753, essv6842551, essv6796144, essv6803582, essv6970942, essv6851384, essv6928020, essv6857384, essv6685181, essv6761063, essv6831414, essv6912718, essv6953346, essv6905014, essv6709603, essv6945078, essv6779569, essv6870800, essv6673329, essv6783671, essv6965977, essv6720790, essv6716913, essv6713103, essv6873760, essv6931961, essv6806466, essv6775813, essv6768587, essv6739309, essv6677935, essv6806876, essv6977423, essv6920324, essv6732244, essv6815564, essv6691704, essv6809463, essv6939984, essv6800336, essv6728440, essv6787863, essv6827836, essv6936270, essv6940460, essv6772172, essv6681693, essv6773309, essv6846038, essv6695677, essv6900388

Samples

SSM036, SSM008, SSM071, SSM027, SSM075, SSM045, SSM046, SSM064, SSM065, SSM087, SSM013, SSM009, SSM073, SSM074, SSM042, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM069, SSM061, SSM029, SSM026, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM020, SSM007, SSM015, SSM080, SSM037, SSM077, SSM022, SSM091, SSM025, SSM034, SSM043, SSM012

Known Genes

ANKLE2

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)

esv2747035

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	53
Observed Complex	0
Frequency	n/a