Variant Details

Variant: esv2759379

Internal ID

9634838

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:131103304..131256219	hg38	UCSC Ensembl
Inner	chr5:130438997..130591912	hg19	UCSC Ensembl
Inner	chr5:130466896..130619811	hg18	UCSC Ensembl
Inner	chr5:130466896..130619811	hg17	UCSC Ensembl

Cytoband

5q23.3

Allele length

Assembly	Allele length
hg38	152916
hg19	152916
hg18	152916
hg17	152916

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758017

Samples

NA18502, NA11830, NA19203, NA18621, NA18862, NA18861, NA18508, NA12814, NA18507, NA19145, NA18603, NA18545, NA12801, NA18504, NA12248, NA12146, NA07357, NA19127, NA19192, NA19171, NA19005, NA19201, NA18995, NA18547, NA19131, NA07048, NA19130, NA12005, NA19137, NA19238, NA19207, NA19172, NA19159, NA19239, NA19209, NA10839, NA12760, NA12752, NA07022, NA19194, NA12003, NA10831, NA19152, NA19161, NA18515, NA19205, NA18991, NA18516, NA18871, NA18503, NA12234, NA19208, NA19221, NA19202, NA19000, NA11840, NA18856, NA18912, NA18857, NA12239, NA18853, NA19099, NA12707, NA19101, NA18555, NA06985, NA19160, NA19132, NA18858, NA18945, NA19094, NA19003, NA18632, NA06991, NA18863, NA19140, NA19240, NA19100, NA19144, NA18992, NA12874, NA19143, NA18971, NA19173, NA19211, NA19093, NA18500, NA18609, NA18506, NA19102, NA18972, NA18872, NA07056, NA19129, NA19139, NA18522, NA07034, NA18622, NA19153, NA18965, NA11832, NA18997

Known Genes

HINT1, LYRM7

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)

esv2759379

Frequency

Sample Size	270
Observed Gain	102
Observed Loss	0
Observed Complex	0
Frequency	n/a