Variant Details

Variant: esv2757849

Internal ID

9633308

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:231672114..232141148	hg38	UCSC Ensembl
Inner	chr2:232536825..233005858	hg19	UCSC Ensembl
Inner	chr2:232245069..232714102	hg18	UCSC Ensembl
Inner	chr2:232362330..232831363	hg17	UCSC Ensembl

Cytoband

2q37.1

Allele length

Assembly	Allele length
hg38	469035
hg19	469034
hg18	469034
hg17	469034

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759117

Supporting Variants

essv20894, essv20048, essv3466, essv7395, essv15866, essv10745, essv6834, essv20772, essv15520, essv9710, essv8304, essv5932, essv15396, essv3363, essv8728, essv700, essv14062, essv8431, essv256, essv22600, essv23577, essv16232, essv4628, essv10481, essv2190, essv18132, essv23196, essv11656, essv4226, essv15991, essv20672, essv22765, essv13808, essv4689, essv397, essv7584, essv5727, essv12725, essv5302, essv21346, essv23847, essv39, essv21518, essv24495, essv19165, essv20125, essv10653, essv4151, essv3146, essv24812, essv5515, essv12664, essv11078, essv8820, essv823, essv3551, essv22149, essv7154, essv11796, essv23359, essv10235, essv9609, essv24153, essv17643, essv12403, essv4948, essv23132, essv5145, essv873, essv18773, essv5119, essv23826, essv1222, essv5238, essv3743, essv5198, essv6766, essv14723, essv12511, essv23866, essv15787, essv4557, essv17441, essv24660, essv4063, essv16123, essv8936, essv20606, essv17976, essv14150, essv22198, essv20324, essv13522, essv24570, essv20306, essv14894, essv1407, essv2475, essv13476, essv6972, essv2098, essv17247, essv6585, essv7838, essv9997, essv8387, essv10297, essv9332, essv1162, essv23976, essv9427, essv9781, essv20410, essv21164, essv25022, essv21760, essv1858, essv22311, essv11781, essv15642, essv5554, essv544, essv15267, essv18653, essv14480, essv10924, essv3041, essv11867, essv2828, essv9024, essv23224, essv22935, essv15296, essv5059, essv11427, essv19945, essv21396, essv1775

Samples

NA18998, NA19141, NA11830, NA19203, NA18621, NA11829, NA18862, NA18861, NA18508, NA12814, NA18524, NA18855, NA12236, NA18999, NA18603, NA19092, NA18545, NA07029, NA12801, NA18504, NA12146, NA12865, NA10857, NA12750, NA07357, NA12813, NA18563, NA19192, NA18550, NA18995, NA12802, NA18635, NA12891, NA18558, NA18547, NA19131, NA18960, NA11992, NA07048, NA18582, NA18949, NA18611, NA07019, NA12156, NA19238, NA12044, NA19207, NA19159, NA19209, NA10839, NA18975, NA18973, NA19200, NA11993, NA19007, NA10847, NA18951, NA07022, NA12003, NA19152, NA12878, NA19161, NA18515, NA18991, NA18529, NA18516, NA18637, NA18579, NA19103, NA18976, NA18948, NA18503, NA18981, NA12234, NA19208, NA19221, NA19202, NA19000, NA10830, NA18912, NA12892, NA19154, NA18857, NA12239, NA18853, NA19099, NA18555, NA07345, NA12144, NA06985, NA18523, NA19160, NA19132, NA18858, NA18593, NA18945, NA19012, NA18576, NA12043, NA19094, NA18914, NA18632, NA12716, NA11881, NA18961, NA18863, NA18564, NA19140, NA18913, NA19100, NA12873, NA18992, NA12874, NA07348, NA12763, NA18594, NA18501, NA12740, NA18971, NA19223, NA18987, NA19211, NA10860, NA18521, NA18500, NA18506, NA07056, NA18505, NA18624, NA12006, NA18623, NA18522, NA18622, NA19153, NA18562, NA18965, NA18577, NA18997

Known Genes

COPS7B, DIS3L2, MIR1244-1, MIR1244-2, MIR1244-3, MIR1471, NPPC, PDE6D, PTMA

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)

esv2757849

Frequency

Sample Size	270
Observed Gain	1
Observed Loss	137
Observed Complex	0
Frequency	n/a