Variant Details

Variant: esv2757781

Internal ID

9633240

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:248336807..248702073	hg38	UCSC Ensembl
Inner	chr1:248500109..248865374	hg19	UCSC Ensembl
Inner	chr1:246566732..246931997	hg18	UCSC Ensembl
Inner	chr1:244826150..245191415	hg17	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	365267
hg19	365266
hg18	365266
hg17	365266

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759015

Supporting Variants

essv11433, essv7813, essv10788, essv17008, essv10455, essv10361, essv8114, essv2283, essv18649, essv11889, essv9449, essv12319, essv16289, essv15465, essv15025, essv21343, essv24649, essv17280, essv19980, essv22419, essv11707, essv14863, essv5906, essv16689, essv8486, essv10087, essv14576, essv22951, essv4713, essv13732, essv23399, essv16090, essv5185, essv16758, essv9142, essv19400, essv9588, essv14742, essv16426, essv8824, essv12992, essv14303, essv10068, essv15776, essv22471, essv5503, essv17132, essv15752, essv10555, essv20914, essv24829, essv15893, essv6887, essv10214, essv10856, essv4048, essv22315, essv862, essv8329

Samples

NA19141, NA19222, NA11829, NA18508, NA12801, NA07357, NA12813, NA19171, NA18550, NA10854, NA19119, NA18635, NA18860, NA18558, NA19131, NA19138, NA19130, NA18611, NA12761, NA18966, NA19159, NA18605, NA19194, NA19152, NA12878, NA19161, NA18859, NA18515, NA18516, NA18871, NA19103, NA12234, NA19208, NA19221, NA19202, NA19142, NA19000, NA11840, NA18856, NA19154, NA18857, NA19099, NA06985, NA18523, NA18632, NA19206, NA19240, NA19100, NA19144, NA10861, NA19223, NA18872, NA18505, NA19129, NA19139, NA07000, NA18522, NA18622

Known Genes

OR14C36, OR14I1, OR2G6, OR2T1, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6

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)

esv2757781

Frequency

Sample Size	270
Observed Gain	1
Observed Loss	58
Observed Complex	0
Frequency	n/a