Variant Details

Variant: esv2758519

Internal ID

9633978

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:32908001..33160360	hg38	UCSC Ensembl
Inner	chr20:31495807..31748166	hg19	UCSC Ensembl
Inner	chr20:30959468..31211827	hg18	UCSC Ensembl
Inner	chr20:30959468..31211827	hg17	UCSC Ensembl

Cytoband

20q11.21

Allele length

Assembly	Allele length
hg38	252360
hg19	252360
hg18	252360
hg17	252360

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758792

Supporting Variants

essv7810, essv10644, essv16291, essv4037, essv8340, essv11882, essv8798, essv16673, essv13423, essv16091, essv21715, essv6262, essv18645, essv16772, essv17073, essv2996, essv1284, essv14555, essv14958, essv9359, essv23602, essv17632, essv9456, essv24585, essv20373, essv3991, essv1730, essv10063, essv14152, essv17155, essv11504, essv13096, essv15602, essv16030, essv18140, essv15501, essv16897, essv10846, essv4157, essv7737, essv13195, essv12687, essv13571, essv8724, essv20674, essv10897, essv9873

Samples

NA18508, NA18855, NA19145, NA19092, NA12248, NA18870, NA18633, NA19192, NA19171, NA18995, NA18635, NA18558, NA11992, NA18970, NA19137, NA19172, NA19209, NA11993, NA12753, NA19161, NA19205, NA18871, NA18981, NA12234, NA19208, NA19221, NA19202, NA19142, NA10830, NA12892, NA18853, NA19099, NA18555, NA19160, NA18858, NA19140, NA19100, NA18501, NA19173, NA18636, NA18500, NA19102, NA18872, NA18852, NA18505, NA12006, NA18997

Known Genes

BPIFB2, BPIFB3, BPIFB4, BPIFB6, SUN5

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)

esv2758519

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	47
Observed Complex	0
Frequency	n/a