Variant Details

Variant: esv2757780

Internal ID

9633239

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:247551283..248113844	hg38	UCSC Ensembl
Inner	chr1:247714585..248277146	hg19	UCSC Ensembl
Inner	chr1:245781208..246343769	hg18	UCSC Ensembl
Inner	chr1:244040626..244603187	hg17	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	562562
hg19	562562
hg18	562562
hg17	562562

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759014

Supporting Variants

essv14597, essv17603, essv23536, essv6765, essv5500, essv13602

Samples

NA19127, NA06993, NA12753, NA18632, NA19093, NA18562

Known Genes

GCSAML, OR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2G2, OR2G3, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2T8, OR2W3, OR6F1, TRIM58

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)

esv2757780

Frequency

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