Variant Details

Variant: esv2758294

Internal ID

9633753

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:10817021..11561987	hg38	UCSC Ensembl
Inner	chr12:10969620..11714921	hg19	UCSC Ensembl
Inner	chr12:10860887..11606188	hg18	UCSC Ensembl
Inner	chr12:10860887..11606188	hg17	UCSC Ensembl

Cytoband

12p13.2

Allele length

Assembly	Allele length
hg38	744967
hg19	745302
hg18	745302
hg17	745302

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759879

Supporting Variants

essv15874, essv17476, essv24391, essv21330, essv18861, essv9218, essv6911, essv22215, essv13071, essv10301, essv23332, essv13596, essv6357, essv8090, essv17035, essv16536, essv11995, essv8220, essv8785, essv19436, essv10992, essv11102, essv11934, essv22136, essv12409, essv19583, essv10518, essv13721, essv12829, essv21383, essv9675, essv17152, essv16198, essv17750, essv23774, essv19008, essv11697

Samples

NA18502, NA18508, NA12751, NA10857, NA12750, NA19127, NA19171, NA19119, NA12762, NA12005, NA19238, NA12044, NA19128, NA18605, NA19210, NA19120, NA10831, NA12878, NA19161, NA11840, NA19154, NA12707, NA19206, NA18517, NA12864, NA18913, NA19240, NA19144, NA12763, NA19143, NA12740, NA19223, NA19211, NA18609, NA18506, NA19116, NA18852

Known Genes

LOC100129361, LOC338817, PRB1, PRB2, PRB3, PRB4, PRH1, PRH1-PRR4, PRH2, PRR4, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50

Method

BAC aCGH

Analysis

Array images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).

Platform

Agilent

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

esv2758294

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	37
Observed Complex	0
Frequency	n/a