Variant Details

Variant: esv2757771

Internal ID

9633230

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:222122625..222284971	hg38	UCSC Ensembl
Inner	chr1:222295967..222458313	hg19	UCSC Ensembl
Inner	chr1:220362590..220524936	hg18	UCSC Ensembl
Inner	chr1:218684362..218846708	hg17	UCSC Ensembl

Cytoband

1q41

Allele length

Assembly	Allele length
hg38	162347
hg19	162347
hg18	162347
hg17	162347

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758998

Supporting Variants

essv23431, essv408, essv17497, essv21029, essv17938

Samples

NA10854, NA12762, NA12003, NA06991, NA18971

Known Genes

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)

esv2757771

Frequency

Sample Size	270
Observed Gain	3
Observed Loss	2
Observed Complex	0
Frequency	n/a