Variant Details

Variant: esv2758700

Internal ID

9634159

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:59918286..60081801	hg38	UCSC Ensembl
Inner	chr17:57995647..58159162	hg19	UCSC Ensembl
Inner	chr17:55350429..55513944	hg18	UCSC Ensembl
Inner	chr17:55350429..55513944	hg17	UCSC Ensembl

Cytoband

17q23.1

Allele length

Assembly	Allele length
hg38	163516
hg19	163516
hg18	163516
hg17	163516

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758463

Samples

NA18998, NA19204, NA18861, NA18508, NA19145, NA19201, NA19131, NA18964, NA19238, NA19128, NA19152, NA19161, NA18859, NA18515, NA19202, NA19142, NA19154, NA18853, NA19132, NA18632, NA18517, NA18863, NA19240, NA19100, NA19144, NA19211, NA18506, NA12875, NA18854, NA19129, NA18997

Known Genes

HEATR6, MIR4737, RNFT1, RPS6KB1, TBC1D3P1-DHX40P1

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)

esv2758700

Frequency

Sample Size	270
Observed Gain	30
Observed Loss	1
Observed Complex	0
Frequency	n/a