Variant Details

Variant: esv2757825

Internal ID

9633284

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:111142206..111989360	hg38	UCSC Ensembl
Inner	chr2:111899783..112746937	hg19	UCSC Ensembl
Inner	chr2:111616254..112463408	hg18	UCSC Ensembl
Inner	chr2:111616014..112463168	hg17	UCSC Ensembl

Cytoband

2q13

Allele length

Assembly	Allele length
hg38	847155
hg19	847155
hg18	847155
hg17	847155

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759083

Supporting Variants

essv13854, essv11529, essv24859, essv17426, essv9688, essv5358, essv20781, essv10937, essv16895, essv22194, essv9020, essv12679, essv16818, essv20040, essv15690, essv3535, essv18434, essv23511, essv14542, essv21801, essv15249, essv15003, essv22454, essv4501, essv9347, essv15044

Samples

NA12146, NA18870, NA18563, NA07048, NA12761, NA12044, NA19209, NA11831, NA19205, NA19202, NA18912, NA12239, NA18853, NA19132, NA12043, NA19094, NA18913, NA19173, NA18500, NA18854, NA18872, NA18552, NA19129, NA07000, NA07034, NA18965

Known Genes

ANAPC1, BCL2L11, MERTK, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4771-1, MIR4771-2

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)

esv2757825

Frequency

Sample Size	270
Observed Gain	10
Observed Loss	16
Observed Complex	0
Frequency	n/a