Variant Details

Variant: esv2758693

Internal ID

9634152

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:47443008..47687590	hg38	UCSC Ensembl
Inner	chr17:45520374..45764956	hg19	UCSC Ensembl
Inner	chr17:42875373..43119955	hg18	UCSC Ensembl
Inner	chr17:42875373..43119955	hg17	UCSC Ensembl

Cytoband

17q21.32

Allele length

Assembly	Allele length
hg38	244583
hg19	244583
hg18	244583
hg17	244583

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758458

Samples

NA18998, NA18502, NA19222, NA19204, NA18862, NA18861, NA18508, NA18524, NA18507, NA19145, NA18545, NA19098, NA18633, NA18969, NA19127, NA19192, NA19171, NA19201, NA18995, NA19119, NA18635, NA18860, NA18547, NA19131, NA12762, NA18964, NA19130, NA18949, NA19238, NA19207, NA19172, NA19128, NA18966, NA19159, NA10855, NA19239, NA19209, NA11993, NA19210, NA19120, NA19194, NA19152, NA19161, NA18859, NA18515, NA19205, NA18871, NA18976, NA18503, NA11839, NA19208, NA19221, NA19202, NA18537, NA19142, NA18912, NA19154, NA18853, NA12264, NA19099, NA18523, NA19160, NA19132, NA18570, NA18858, NA18914, NA18632, NA19206, NA18517, NA18863, NA12057, NA18913, NA19240, NA19100, NA19144, NA19143, NA18501, NA19223, NA19173, NA19211, NA19093, NA18500, NA18506, NA19102, NA12875, NA18854, NA19116, NA18872, NA18852, NA18505, NA19129, NA19153, NA18562, NA18965, NA18997

Known Genes

KPNB1, MRPL45P2, NPEPPS

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)

esv2758693

Frequency

Sample Size	270
Observed Gain	87
Observed Loss	8
Observed Complex	0
Frequency	n/a