Variant Details

Variant: esv2758958

Internal ID

9634417

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:108076252..108554056	hg38	UCSC Ensembl
Inner	chr1:108618874..109096678	hg19	UCSC Ensembl
Inner	chr1:108420397..108898201	hg18	UCSC Ensembl
Inner	chr1:108330916..108808720	hg17	UCSC Ensembl

Cytoband

1p13.3

Allele length

Assembly	Allele length
hg38	477805
hg19	477805
hg18	477805
hg17	477805

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757746

Samples

NA19141, NA19222, NA19203, NA18621, NA18947, NA11829, NA19204, NA18508, NA12814, NA18524, NA18855, NA12236, NA07029, NA12004, NA18504, NA18959, NA12865, NA10857, NA18969, NA12813, NA18967, NA19127, NA19192, NA19171, NA18944, NA12812, NA18558, NA18547, NA12762, NA19138, NA19130, NA18949, NA12005, NA12044, NA19128, NA12815, NA19159, NA10855, NA19007, NA18951, NA18605, NA19210, NA12760, NA12752, NA19120, NA07022, NA19194, NA12872, NA19161, NA19205, NA18529, NA19103, NA18976, NA10838, NA18981, NA12234, NA19221, NA19202, NA18537, NA19142, NA19000, NA11840, NA10830, NA18856, NA12249, NA18912, NA19154, NA18853, NA19099, NA19101, NA12144, NA06985, NA18523, NA19160, NA10856, NA18974, NA18608, NA19094, NA18978, NA11882, NA19206, NA06991, NA11881, NA18952, NA12864, NA18913, NA19100, NA12873, NA19144, NA12874, NA07348, NA12763, NA18501, NA12740, NA18971, NA19223, NA19173, NA18987, NA19211, NA19093, NA10860, NA18636, NA19102, NA18854, NA19116, NA07056, NA18505, NA19129, NA18968, NA19139, NA12154, NA07034, NA18622

Known Genes

NBPF4, NBPF6, SLC25A24

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)

esv2758958

Frequency

Sample Size	270
Observed Gain	112
Observed Loss	1
Observed Complex	0
Frequency	n/a