Variant Details

Variant: esv2759386

Internal ID

9634845

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:150445030..150906180	hg38	UCSC Ensembl
Inner	chr5:149824593..150285742	hg19	UCSC Ensembl
Inner	chr5:149804786..150265935	hg18	UCSC Ensembl
Inner	chr5:149804786..150265935	hg17	UCSC Ensembl

Cytoband

5q33.1

Allele length

Assembly	Allele length
hg38	461151
hg19	461150
hg18	461150
hg17	461150

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758021

Samples

NA18998, NA18502, NA19141, NA19222, NA19203, NA18947, NA11995, NA18862, NA18861, NA18980, NA18855, NA12236, NA18999, NA19092, NA18545, NA18959, NA19098, NA18967, NA18563, NA19127, NA19192, NA19171, NA19005, NA18940, NA19201, NA18995, NA19119, NA18635, NA18547, NA19131, NA18942, NA18571, NA18964, NA19130, NA18949, NA18611, NA18970, NA19137, NA19238, NA19207, NA19172, NA19159, NA18990, NA19209, NA19200, NA18605, NA19210, NA19120, NA19194, NA19152, NA19161, NA18515, NA19205, NA18516, NA18637, NA18871, NA18572, NA18976, NA19208, NA19202, NA18537, NA18573, NA19142, NA19000, NA18856, NA18912, NA18857, NA18853, NA19099, NA18555, NA18523, NA19160, NA19132, NA18570, NA18858, NA18593, NA18945, NA18576, NA18953, NA19094, NA18978, NA18632, NA19206, NA18863, NA19140, NA19240, NA19100, NA19144, NA18943, NA19193, NA12874, NA18594, NA18501, NA19173, NA18987, NA19211, NA18994, NA19093, NA18500, NA18609, NA19102, NA18854, NA19116, NA18505, NA19129, NA18624, NA19139, NA18522, NA18612, NA18622, NA18562, NA18997

Known Genes

DCTN4, IRGM, LOC102546298, MYOZ3, NDST1, RBM22, RPS14, SMIM3, SYNPO, ZNF300

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)

esv2759386

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	112
Observed Complex	0
Frequency	n/a