Variant Details

Variant: esv2759331

Internal ID

9634790

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:21149044..21713081	hg38	UCSC Ensembl
Inner	chr5:21149153..21713190	hg19	UCSC Ensembl
Inner	chr5:21184910..21748947	hg18	UCSC Ensembl
Inner	chr5:21184910..21748947	hg17	UCSC Ensembl

Cytoband

5p14.3

Allele length

Assembly	Allele length
hg38	564038
hg19	564038
hg18	564038
hg17	564038

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757988

Samples

NA19222, NA11830, NA19204, NA18862, NA18508, NA12751, NA12801, NA12248, NA12865, NA10857, NA19098, NA07357, NA12813, NA18940, NA12812, NA18960, NA07048, NA12762, NA19130, NA12005, NA12156, NA12044, NA19128, NA10855, NA18973, NA11993, NA11831, NA19210, NA12003, NA12878, NA18515, NA18991, NA18871, NA18503, NA18573, NA19142, NA11840, NA12892, NA19154, NA19099, NA12707, NA19101, NA18523, NA19132, NA12043, NA18608, NA19206, NA06991, NA12716, NA11881, NA12864, NA12057, NA12873, NA19193, NA12874, NA07348, NA18501, NA12740, NA18971, NA18987, NA19093, NA18506, NA18872, NA18852, NA07056, NA18505, NA19129, NA12006, NA18623, NA07000, NA18997

Known Genes

GUSBP1

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)

esv2759331

Frequency

Sample Size	270
Observed Gain	53
Observed Loss	20
Observed Complex	0
Frequency	n/a