Variant Details

Variant: esv2758936

Internal ID

9981081

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:53452879..53563563	hg38	UCSC Ensembl
Inner	chr1:53918552..54029236	hg19	UCSC Ensembl
Inner	chr1:53691140..53801824	hg18	UCSC Ensembl
Inner	chr1:53630573..53741257	hg17	UCSC Ensembl

Cytoband

1p32.3

Allele length

Assembly	Allele length
hg38	110685
hg19	110685
hg18	110685
hg17	110685

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757732

Samples

NA12814, NA18545, NA12248, NA19192, NA18995, NA18558, NA18571, NA18949, NA18970, NA19205, NA10838, NA12234, NA10830, NA18912, NA18853, NA07348, NA18636, NA18500, NA18854, NA18872

Known Genes

DMRTB1, GLIS1

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)

esv2758936

Frequency

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