Variant Details

Variant: esv2759996

Internal ID

9635455

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:73493593..73660367	hg38	UCSC Ensembl
Inner	chr14:73960297..74127070	hg19	UCSC Ensembl
Inner	chr14:73030050..73196823	hg18	UCSC Ensembl
Inner	chr14:73030050..73196823	hg17	UCSC Ensembl

Cytoband

14q24.3

Allele length

Assembly	Allele length
hg38	166775
hg19	166774
hg18	166774
hg17	166774

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758361

Samples

NA18502, NA18861, NA18855, NA19145, NA18545, NA10857, NA19098, NA19171, NA10846, NA18860, NA12891, NA07048, NA18571, NA12762, NA19138, NA12005, NA12156, NA12044, NA19128, NA10855, NA19209, NA19200, NA19210, NA12752, NA19194, NA12003, NA10831, NA18859, NA10838, NA12234, NA19221, NA19202, NA18532, NA18853, NA19101, NA06985, NA19094, NA19206, NA19100, NA19144, NA07055, NA18501, NA19223, NA19173, NA18987, NA19211, NA18521, NA18854, NA19116, NA19129, NA19139, NA11832

Known Genes

ACOT1, ACOT2, ACOT4, ACOT6, DNAL1, HEATR4

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)

esv2759996

Frequency

Sample Size	270
Observed Gain	52
Observed Loss	0
Observed Complex	0
Frequency	n/a