Variant Details

Variant: esv2758234

Internal ID

9633693

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:86755301..87550005	hg38	UCSC Ensembl
Inner	chr10:88515058..89309762	hg19	UCSC Ensembl
Inner	chr10:88505038..89299742	hg18	UCSC Ensembl
Inner	chr10:88505038..89299742	hg17	UCSC Ensembl

Cytoband

10q23.2

Allele length

Assembly	Allele length
hg38	794705
hg19	794705
hg18	794705
hg17	794705

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759774

Supporting Variants

essv12682, essv10422, essv590, essv22314, essv11855, essv10050, essv12360, essv6781, essv23622, essv4576, essv2584, essv19566, essv1787, essv24051, essv17699, essv17183, essv4626, essv3811, essv20231, essv14738, essv22863, essv14468, essv22998, essv21256, essv12856, essv24659, essv17435, essv12539, essv8472, essv24415, essv23079, essv9728, essv22233, essv11251, essv20188, essv1091, essv16522, essv21348, essv1532, essv21374, essv23867, essv18102, essv11931, essv17101, essv20968, essv15480, essv21513, essv1026, essv19425, essv18343, essv10689, essv6303, essv5360, essv2006, essv19162, essv13529, essv19220, essv14351, essv4485, essv18925, essv20396, essv18174, essv22420, essv11682, essv5741, essv15013, essv21048, essv5542, essv15882, essv8797, essv6016, essv15118, essv12512, essv18616, essv22030, essv9195, essv2644, essv792, essv16028, essv13890, essv23924, essv1392, essv4047, essv2547, essv6602, essv13082, essv17924, essv24527, essv2980, essv12761, essv7182, essv22365, essv1264, essv12197, essv8754, essv22468, essv17842, essv4781, essv5123, essv22147, essv6166, essv18750, essv24757, essv3771, essv10819, essv20640, essv7032, essv83, essv7599, essv24298, essv16894, essv10295, essv17514, essv10914, essv4394, essv2879, essv20795, essv162, essv3342, essv1827, essv1431, essv9333, essv24846, essv11009, essv23351, essv3204, essv5464, essv9833, essv3879, essv16450, essv18316, essv11993, essv15122, essv24993, essv21067, essv8125, essv19749, essv1619, essv282, essv10168, essv5037, essv14120, essv13796, essv7795, essv15564, essv4989, essv15653, essv4916, essv21434, essv16270, essv13682, essv10781, essv22598, essv20347, essv2265, essv20604, essv10485, essv386, essv4118, essv21713, essv15789, essv11178, essv21226, essv4305, essv13613, essv9038, essv11546, essv19907, essv2215, essv16734, essv13466, essv17270, essv9234, essv20288, essv3108, essv23447, essv15370, essv22659, essv15220, essv10568, essv6698

Samples

NA18998, NA18502, NA12717, NA19222, NA11830, NA18621, NA11829, NA19204, NA18862, NA18861, NA18508, NA12814, NA18524, NA18980, NA18855, NA12236, NA18561, NA18603, NA19092, NA18545, NA12801, NA12248, NA12146, NA12865, NA10857, NA19098, NA18870, NA12750, NA07357, NA18969, NA12813, NA18967, NA18563, NA19127, NA19192, NA19171, NA19005, NA18944, NA12812, NA19201, NA10835, NA10846, NA18995, NA10854, NA12802, NA19119, NA18635, NA18558, NA18547, NA19131, NA18960, NA18942, NA18571, NA12762, NA19138, NA18964, NA19130, NA18949, NA12761, NA12005, NA19137, NA12044, NA11994, NA19207, NA19172, NA19128, NA18966, NA19159, NA18990, NA10855, NA19209, NA10839, NA11993, NA19007, NA19210, NA12760, NA12752, NA19120, NA19194, NA12003, NA10831, NA12878, NA12872, NA19161, NA18956, NA18515, NA19205, NA18991, NA18529, NA18516, NA18637, NA18871, NA18976, NA18503, NA10838, NA18981, NA12234, NA19221, NA18573, NA11840, NA10830, NA18912, NA12892, NA19154, NA18532, NA18853, NA19099, NA12707, NA19101, NA18555, NA12144, NA06985, NA18523, NA19160, NA19132, NA10856, NA18593, NA18945, NA18974, NA18576, NA12043, NA18608, NA18953, NA19094, NA19003, NA18978, NA18914, NA18632, NA19206, NA06991, NA18961, NA18517, NA12864, NA18863, NA12057, NA10859, NA18913, NA19240, NA12873, NA10861, NA18943, NA12874, NA07348, NA18594, NA19143, NA18501, NA12740, NA18971, NA19223, NA19173, NA19211, NA18994, NA10860, NA18500, NA18609, NA18506, NA12875, NA18854, NA18872, NA18552, NA18852, NA07056, NA18505, NA19129, NA18968, NA19139, NA12006, NA07000, NA12154, NA18612, NA19153, NA18562, NA18577, NA11832, NA18620, NA18997

Known Genes

ADIRF, AGAP11, BMPR1A, FAM25A, FAM35A, GLUD1, LINC00864, LOC439994, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2A-AS1, NUTM2D, SNCG

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)

esv2758234

Frequency

Sample Size	270
Observed Gain	8
Observed Loss	173
Observed Complex	0
Frequency	n/a