Variant Details

Variant: esv2757754

Internal ID

9633213

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:147685111..149990513	hg19	UCSC Ensembl
Inner	chr1:146151735..148257137	hg18	UCSC Ensembl
Inner	chr1:144800023..146803586	hg17	UCSC Ensembl

Cytoband

1q21.1

Allele length

Assembly	Allele length
hg19	2305403
hg18	2105403
hg17	2003564

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758968

Supporting Variants

essv15814, essv17529, essv17061, essv16863, essv13426, essv23127, essv14353, essv3856, essv5931, essv5499, essv16212, essv23449, essv3899, essv2977, essv19022, essv14637, essv9907, essv6764, essv10845, essv19982, essv12976, essv19175, essv15149, essv4381, essv20397, essv5355, essv1416, essv3814, essv7090, essv24766, essv784, essv365, essv9644, essv20345, essv15372, essv11239, essv16973, essv17982, essv9045, essv10829, essv3738, essv5263, essv6192, essv24297, essv21717, essv1936, essv15554, essv12374, essv9741, essv6701, essv6270, essv23533, essv24466, essv22893, essv4228, essv24666, essv10403, essv14776, essv18254, essv24310, essv10259, essv18923, essv19622, essv11998, essv17231, essv21457, essv9258, essv10579, essv11872, essv13582, essv4790, essv12576, essv4476, essv20126, essv480, essv17186, essv24045, essv13676, essv17815, essv5085, essv19528, essv20600, essv5604, essv1850, essv17722, essv2666, essv12661, essv14396, essv14456, essv10665, essv6397, essv23032, essv12312, essv11735, essv6809, essv21541, essv8356, essv21252, essv2890, essv13564, essv543, essv13787, essv15771, essv10782, essv6359, essv14506, essv24888, essv3553, essv3142, essv18067, essv24872, essv3958, essv25006, essv22445, essv16750, essv4592, essv8734, essv6129, essv22508, essv1410, essv14134, essv7409, essv4995, essv18756, essv21397, essv15619, essv157, essv20318, essv1126, essv11184, essv13052, essv7782, essv3785, essv23193, essv18156, essv15275, essv22397, essv11489, essv21214, essv10447, essv3134, essv23516, essv15398, essv23811, essv8454, essv7353, essv16323, essv12812, essv20243, essv24394, essv16309, essv19640, essv22325, essv3354, essv7793, essv18447, essv1190, essv23239, essv19241, essv591, essv9759, essv11910, essv17613, essv20194, essv12744, essv8647, essv3695, essv55, essv23385, essv21119, essv14154, essv22394, essv9320, essv16059, essv16702, essv7231, essv7005, essv24384, essv11091, essv5139, essv4704, essv23894, essv18851, essv23013, essv22828, essv21826, essv5407, essv21203, essv10122, essv11729, essv14886, essv10940, essv1601, essv3239, essv2254, essv18380, essv5215, essv19953, essv23084, essv16404, essv3305, essv13915, essv2163, essv8206, essv2459, essv828, essv3453, essv4359, essv2580, essv9110, essv6906, essv15001, essv16504, essv15578, essv24979, essv21512, essv19678, essv15453, essv22662, essv22984, essv4903, essv19415, essv10988, essv15523, essv21335, essv5819, essv1225, essv646, essv18591, essv2522, essv9975, essv15075, essv8140, essv6040, essv2779, essv22588, essv20120

Samples

NA18998, NA18502, NA19141, NA12717, NA19222, NA11830, NA19203, NA18947, NA11829, NA19204, NA18862, NA18861, NA12814, NA18524, NA18855, NA12236, NA18561, NA18507, NA19145, NA18999, NA18603, NA19092, NA12751, NA07029, NA12004, NA18504, NA12248, NA18959, NA12865, NA19098, NA18870, NA12750, NA12155, NA07357, NA18969, NA12813, NA18967, NA18563, NA19127, NA19192, NA19171, NA18944, NA18550, NA12812, NA19201, NA10846, NA18995, NA10854, NA19119, NA18860, NA12891, NA18558, NA18547, NA19131, NA18960, NA18942, NA07048, NA18571, NA12762, NA19138, NA18964, NA06993, NA19130, NA18611, NA12761, NA12005, NA18970, NA12156, NA19137, NA19238, NA19172, NA19128, NA18966, NA12815, NA19159, NA18990, NA10855, NA19239, NA19209, NA10839, NA18975, NA18973, NA11993, NA19007, NA11831, NA18951, NA18605, NA19210, NA12760, NA12752, NA19120, NA19194, NA12753, NA12003, NA10831, NA19152, NA12878, NA12872, NA19161, NA18956, NA18859, NA18515, NA19205, NA18991, NA18529, NA18516, NA18637, NA18579, NA18871, NA18572, NA18976, NA18503, NA11839, NA10838, NA18981, NA12234, NA19221, NA19202, NA18537, NA18566, NA18573, NA19142, NA11840, NA10830, NA12249, NA12056, NA18912, NA19154, NA18532, NA18853, NA12264, NA12145, NA19099, NA12707, NA07345, NA12144, NA06985, NA18523, NA19160, NA19132, NA10856, NA18570, NA18858, NA18945, NA18974, NA18608, NA18953, NA19094, NA19003, NA18914, NA18632, NA11882, NA19206, NA18542, NA18961, NA18952, NA18517, NA12864, NA18863, NA18564, NA10859, NA19140, NA18913, NA19240, NA12873, NA19144, NA18992, NA18943, NA19193, NA12874, NA07348, NA12763, NA19143, NA18501, NA12740, NA18971, NA19223, NA19173, NA18987, NA19211, NA18994, NA19093, NA10860, NA18636, NA18500, NA18609, NA12875, NA18854, NA19116, NA18972, NA18872, NA18552, NA18852, NA07056, NA18505, NA19129, NA18968, NA18624, NA19139, NA18623, NA07000, NA18522, NA07034, NA18612, NA18622, NA19153, NA18562, NA18965, NA18577, NA11832, NA18620

Known Genes

BOLA1, FCGR1A, FCGR1C, HIST2H2AA3, HIST2H2AA4, HIST2H2AB, HIST2H2AC, HIST2H2BC, HIST2H2BE, HIST2H2BF, HIST2H3A, HIST2H3C, HIST2H3D, HIST2H4A, HIST2H4B, LINC00623, LINC00869, LINC01138, LOC100130000, LOC101929780, LOC388692, LOC645166, MIR5087, MIR6077-1, MIR6077-2, MTMR11, NBPF10, NBPF14, NBPF15, NBPF16, NBPF23, NBPF8, NBPF9, OTUD7B, PPIAL4A, PPIAL4B, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, SF3B4, SV2A

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)

esv2757754

Frequency

Sample Size	270
Observed Gain	206
Observed Loss	6
Observed Complex	0
Frequency	n/a