Variant Details

Variant: esv2758837

Internal ID

9634296

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:36779110..36964864	hg38	UCSC Ensembl
Inner	chr22:37175154..37360905	hg19	UCSC Ensembl
Inner	chr22:35505100..35690851	hg18	UCSC Ensembl
Inner	chr22:35499654..35685405	hg17	UCSC Ensembl

Cytoband

22q12.3

Allele length

Assembly	Allele length
hg38	185755
hg19	185752
hg18	185752
hg17	185752

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758546

Samples

NA18998, NA12717, NA18621, NA11829, NA19204, NA18526, NA07357, NA12812, NA10846, NA12891, NA18547, NA19131, NA12762, NA19130, NA12761, NA12005, NA19194, NA12003, NA10831, NA18529, NA11839, NA19000, NA19154, NA12264, NA12145, NA12707, NA12144, NA18523, NA18945, NA12864, NA12057, NA19193, NA06994

Known Genes

CSF2RB, NCF4, PVALB

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)

esv2758837

Frequency

Sample Size	270
Observed Gain	20
Observed Loss	13
Observed Complex	0
Frequency	n/a