Variant Details

Variant: esv2757989

Internal ID

9980066

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:21778632..22163809	hg38	UCSC Ensembl
Inner	chr5:21778741..22163918	hg19	UCSC Ensembl
Inner	chr5:21814498..22199675	hg18	UCSC Ensembl
Inner	chr5:21814498..22199675	hg17	UCSC Ensembl

Cytoband

5p14.3

Allele length

Assembly	Allele length
hg38	385178
hg19	385178
hg18	385178
hg17	385178

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759332

Supporting Variants

essv14724, essv18629, essv16036, essv6774, essv24779, essv4751, essv18207, essv7404, essv7747, essv1626, essv7096, essv13580, essv6674, essv18446, essv21213, essv1489, essv9257, essv18137, essv7006, essv24364, essv18921, essv21261, essv19673, essv13859, essv24576, essv23209, essv23795, essv21014, essv15116, essv18373, essv24839, essv2069, essv19933, essv17420, essv4619, essv23396, essv4555, essv225, essv22230, essv13103, essv22490, essv20153, essv5410, essv18708, essv7349, essv1375, essv10757, essv20317, essv23260, essv19442, essv22121, essv20662, essv552, essv4084, essv1244, essv122, essv20008, essv20630, essv2521, essv22928, essv10847, essv21817, essv11156, essv23007, essv17499, essv19582, essv9821, essv17654, essv21721, essv22575, essv21506, essv15315, essv24464, essv660, essv19163, essv5184, essv3949, essv2224

Samples

NA18998, NA11830, NA18862, NA18524, NA18980, NA12236, NA07029, NA12248, NA12865, NA10857, NA07357, NA12813, NA18563, NA19127, NA12812, NA18995, NA10854, NA18635, NA18960, NA18942, NA11992, NA07048, NA12762, NA18949, NA18611, NA12005, NA18970, NA12156, NA12044, NA19128, NA19159, NA10855, NA18975, NA11993, NA19007, NA11831, NA18871, NA18948, NA11839, NA12234, NA18537, NA11840, NA12249, NA12056, NA12892, NA12264, NA12707, NA18523, NA18570, NA12043, NA18608, NA19003, NA11882, NA18542, NA06991, NA11881, NA12864, NA18863, NA12057, NA12873, NA12874, NA07348, NA12763, NA18594, NA18501, NA19211, NA10860, NA18854, NA18852, NA07056, NA19129, NA18968, NA18623, NA07000, NA18612, NA18562, NA11832, NA18620

Known Genes

CDH12, PMCHL1

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)

esv2757989

Frequency

Sample Size	270
Observed Gain	74
Observed Loss	4
Observed Complex	0
Frequency	n/a