Variant Details

Variant: esv2758948

Internal ID

9634407

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:88946385..89095040	hg38	UCSC Ensembl
Inner	chr1:89412068..89560723	hg19	UCSC Ensembl
Inner	chr1:89184656..89333311	hg18	UCSC Ensembl
Inner	chr1:89124089..89272744	hg17	UCSC Ensembl

Cytoband

1p22.2

Allele length

Assembly	Allele length
hg38	148656
hg19	148656
hg18	148656
hg17	148656

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757739

Samples

NA11829, NA19171, NA07048, NA12005, NA19159, NA19210, NA19194, NA10831, NA19161, NA18529, NA18981, NA19000, NA11840, NA19154, NA18532, NA19099, NA19101, NA19132, NA19094, NA18632, NA19206, NA19144, NA12874, NA19223, NA18987, NA18854, NA19129

Known Genes

CCBL2, GBP1, GBP3, RBMXL1

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)

esv2758948

Frequency

Sample Size	270
Observed Gain	27
Observed Loss	0
Observed Complex	0
Frequency	n/a