Variant Details

Variant: esv2759396

Internal ID

9634855

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:177191316..177375443	hg38	UCSC Ensembl
Inner	chr5:176618317..176802444	hg19	UCSC Ensembl
Inner	chr5:176550923..176735050	hg18	UCSC Ensembl
Inner	chr5:176550923..176735050	hg17	UCSC Ensembl

Cytoband

5q35.3

Allele length

Assembly	Allele length
hg38	184128
hg19	184128
hg18	184128
hg17	184128

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758030

Samples

NA18502, NA18862, NA18508, NA18855, NA19092, NA12751, NA18545, NA12801, NA18504, NA19098, NA19127, NA19171, NA12812, NA19201, NA18995, NA12762, NA19207, NA19159, NA11993, NA19194, NA19152, NA19161, NA19205, NA18871, NA18948, NA18503, NA18981, NA19208, NA19221, NA19202, NA19142, NA18856, NA12892, NA19101, NA18523, NA19160, NA18974, NA19094, NA19206, NA19240, NA19144, NA18501, NA19223, NA18500, NA18506, NA18854, NA18552, NA07056, NA18505, NA19129, NA19139, NA12006, NA12154, NA18997

Known Genes

LMAN2, MXD3, NSD1, PRELID1, RAB24, RGS14

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)

esv2759396

Frequency

Sample Size	270
Observed Gain	54
Observed Loss	0
Observed Complex	0
Frequency	n/a