Variant Details

Variant: esv2758949

Internal ID

9981094

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:90354434..90517742	hg38	UCSC Ensembl
Inner	chr1:90819992..90983299	hg19	UCSC Ensembl
Inner	chr1:90592580..90755887	hg18	UCSC Ensembl
Inner	chr1:90532013..90695320	hg17	UCSC Ensembl

Cytoband

1p22.2

Allele length

Assembly	Allele length
hg38	163309
hg19	163308
hg18	163308
hg17	163308

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757740

Samples

NA18998, NA18502, NA19222, NA18621, NA11829, NA18508, NA12814, NA18524, NA18980, NA12236, NA18561, NA19092, NA18545, NA07029, NA12248, NA18959, NA18526, NA07357, NA18969, NA19171, NA18550, NA10835, NA12891, NA18558, NA18547, NA19131, NA18960, NA18942, NA07048, NA18582, NA12762, NA18964, NA06993, NA19130, NA18949, NA12005, NA19238, NA19207, NA19239, NA19209, NA10839, NA18975, NA19007, NA11831, NA19210, NA19194, NA19152, NA12878, NA18956, NA18859, NA18515, NA18991, NA18529, NA18516, NA10838, NA18981, NA19208, NA19221, NA18856, NA12249, NA18912, NA19154, NA19101, NA12144, NA10856, NA18570, NA18974, NA18576, NA19094, NA19206, NA06991, NA18517, NA10859, NA18913, NA19240, NA19100, NA12873, NA19193, NA19143, NA18501, NA06994, NA18971, NA19223, NA19173, NA19211, NA19093, NA18636, NA18506, NA07056, NA19129, NA18623, NA07000, NA18522, NA07034, NA18612, NA18622, NA19153, NA18620

Known Genes

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)

esv2758949

Frequency

Sample Size	270
Observed Gain	93
Observed Loss	5
Observed Complex	0
Frequency	n/a