Variant Details

Variant: esv2759227

Internal ID

9634686

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:15442993..15747897	hg38	UCSC Ensembl
Inner	chr4:15444617..15749520	hg19	UCSC Ensembl
Inner	chr4:15053715..15358618	hg18	UCSC Ensembl
Inner	chr4:15120886..15425789	hg17	UCSC Ensembl

Cytoband

4p15.32

Allele length

Assembly	Allele length
hg38	304905
hg19	304904
hg18	304904
hg17	304904

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757923

Samples

NA12717, NA19222, NA11830, NA19203, NA11995, NA11829, NA18861, NA18508, NA12814, NA18855, NA18507, NA18545, NA12801, NA18504, NA12248, NA12865, NA10857, NA18633, NA07357, NA18969, NA12813, NA18967, NA18563, NA19192, NA18944, NA18940, NA12812, NA10835, NA18995, NA12802, NA19119, NA18635, NA18860, NA18558, NA18960, NA11992, NA18582, NA18571, NA18949, NA12005, NA18970, NA07019, NA19207, NA19172, NA18966, NA19159, NA19239, NA18975, NA19200, NA11993, NA18951, NA12760, NA12752, NA19194, NA12753, NA10863, NA12878, NA12872, NA19161, NA18859, NA19205, NA18637, NA18579, NA18871, NA19103, NA18976, NA10838, NA18981, NA12234, NA19208, NA19221, NA19202, NA18537, NA18566, NA18573, NA19142, NA11840, NA10830, NA12249, NA12056, NA18912, NA12892, NA12239, NA18853, NA19099, NA18555, NA06985, NA18523, NA19160, NA19132, NA18570, NA18858, NA18576, NA18608, NA18953, NA19094, NA18914, NA19206, NA18542, NA06991, NA18961, NA12864, NA18564, NA19100, NA12874, NA18501, NA19173, NA18987, NA19211, NA10860, NA18636, NA18609, NA18506, NA19102, NA18854, NA18972, NA18872, NA18852, NA07056, NA18505, NA19129, NA18968, NA19139, NA18623, NA18522, NA12154, NA07034, NA18612, NA19153, NA18965, NA18577, NA11832, NA18620

Known Genes

BST1, C1QTNF7, CC2D2A, FAM200B, FBXL5

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)

esv2759227

Frequency

Sample Size	270
Observed Gain	2
Observed Loss	131
Observed Complex	0
Frequency	n/a