Variant Details

Variant: esv2758154

Internal ID

9633613

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:39388279..39740120	hg38	UCSC Ensembl
Inner	chr8:39245798..39597639	hg19	UCSC Ensembl
Inner	chr8:39364955..39716796	hg18	UCSC Ensembl
Inner	chr8:39364955..39716796	hg17	UCSC Ensembl

Cytoband

8p11.22

Allele length

Assembly	Allele length
hg38	351842
hg19	351842
hg18	351842
hg17	351842

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759608

Supporting Variants

essv23988, essv15115, essv19515, essv22428, essv21526, essv11488, essv14111, essv5534, essv17665, essv5994, essv10478, essv22166, essv10001, essv17288, essv7578, essv24569, essv10732, essv3284, essv18844, essv4677, essv2667, essv7735, essv15857, essv11876, essv17095, essv14404, essv5044, essv23002, essv18646, essv1217, essv10396, essv17910, essv144, essv10089, essv820, essv5120, essv10913, essv5929, essv541, essv25017, essv11979, essv10535, essv18401, essv9890, essv5785, essv24054, essv22466, essv2612, essv23950, essv5178, essv19931, essv24675, essv4046, essv14324, essv11821, essv2344, essv2901, essv21439, essv20344, essv5475, essv16947, essv2456, essv11100, essv15997, essv12310, essv5352, essv3803, essv1403, essv10219, essv6260, essv13799, essv2045, essv1120, essv6379, essv8482, essv15374, essv6759, essv6638, essv7009, essv22040, essv12543, essv17470, essv1468, essv6659, essv4753, essv15494, essv2233, essv22355, essv3236, essv3128, essv19648, essv23233, essv793, essv13845, essv20566, essv8282, essv4189, essv16099, essv4838, essv4885, essv14739, essv8935, essv3046, essv21770, essv18152, essv14472, essv16718, essv16206, essv8751, essv22763, essv16396, essv4954, essv1243, essv11768, essv11435, essv3750, essv4140, essv11199, essv891, essv20290, essv1633, essv11005, essv10270, essv4222, essv21965, essv4547, essv19786, essv23171, essv3377, essv6943, essv1931, essv13530, essv303, essv16321, essv7100, essv8853, essv3692, essv17176, essv3878, essv15749, essv12714, essv10832, essv1519, essv21159, essv14632, essv6316, essv23495, essv4642, essv4398, essv12380, essv22524, essv6154, essv51, essv15255, essv13680, essv12978, essv12627, essv5146, essv1006, essv24821, essv20186, essv17783, essv15571, essv16533, essv3479, essv14520, essv11720, essv13648, essv7776, essv23143, essv23028, essv13171, essv9602, essv9166, essv14889, essv14177, essv12157, essv9701, essv7289, essv17619, essv9052, essv15701, essv12778, essv10627, essv9752, essv8603, essv17229, essv16775, essv13041, essv23835, essv22536

Samples

NA18998, NA19141, NA12717, NA19222, NA18621, NA18947, NA11995, NA11829, NA19204, NA18862, NA18861, NA18592, NA18508, NA12814, NA18524, NA18980, NA18855, NA12236, NA18561, NA18507, NA19145, NA18999, NA18603, NA19092, NA12751, NA18545, NA07029, NA18504, NA18959, NA10857, NA19098, NA18526, NA18633, NA07357, NA18969, NA12813, NA18967, NA18563, NA19127, NA19171, NA19005, NA18944, NA18940, NA18550, NA12812, NA19201, NA10835, NA18995, NA19119, NA18635, NA12891, NA19131, NA18942, NA11992, NA18582, NA18571, NA12762, NA19138, NA18964, NA19130, NA18949, NA18611, NA12761, NA07019, NA12156, NA19137, NA19238, NA19172, NA19128, NA18966, NA12815, NA19159, NA18990, NA19239, NA19209, NA10839, NA18973, NA19200, NA11993, NA19007, NA18951, NA19210, NA19120, NA07022, NA19194, NA12753, NA12003, NA10831, NA19152, NA19161, NA18956, NA18859, NA18515, NA18991, NA18529, NA18516, NA18637, NA18871, NA19103, NA18572, NA18503, NA18981, NA12234, NA19221, NA19202, NA18537, NA18566, NA18573, NA19142, NA19000, NA18856, NA12249, NA18912, NA19154, NA18857, NA18532, NA12239, NA12264, NA19099, NA19101, NA18555, NA12144, NA18523, NA19160, NA19132, NA18945, NA18974, NA18576, NA18608, NA18953, NA19094, NA18978, NA18914, NA18632, NA11882, NA18542, NA12716, NA11881, NA18961, NA18517, NA12864, NA18863, NA18540, NA18564, NA10859, NA19140, NA18913, NA19240, NA19100, NA12873, NA19144, NA18992, NA10861, NA18943, NA19193, NA07348, NA18594, NA19143, NA18501, NA19223, NA19173, NA19211, NA18994, NA19093, NA18636, NA18521, NA18500, NA18609, NA18506, NA19102, NA12875, NA18854, NA18972, NA18872, NA18852, NA07056, NA18505, NA19129, NA18968, NA19139, NA07000, NA18522, NA12154, NA07034, NA18612, NA18622, NA19153, NA18562, NA18577, NA11832, NA18620

Known Genes

ADAM18, ADAM3A, ADAM5, LOC100130964

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)

esv2758154

Frequency

Sample Size	270
Observed Gain	169
Observed Loss	22
Observed Complex	0
Frequency	n/a