Variant Details

Variant: esv2757834

Internal ID

9633293

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:129589265..132440430	hg38	UCSC Ensembl
Inner	chr2:130346838..133198003	hg19	UCSC Ensembl
Inner	chr2:130063308..132914473	hg18	UCSC Ensembl
Inner	chr2:130063068..133031735	hg17	UCSC Ensembl

Cytoband

2q21.1

Allele length

Assembly	Allele length
hg38	2851166
hg19	2851166
hg18	2851166
hg17	2968668

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759092

Supporting Variants

essv21684, essv22220, essv9816, essv17536, essv9118, essv4357, essv15323, essv1836, essv24720, essv6128, essv17551, essv23483, essv20969, essv13004, essv23956, essv17249, essv10341, essv23971, essv20943, essv24680, essv1492, essv24587, essv5371, essv20141, essv9100, essv1367, essv22501, essv9255, essv1188, essv13829, essv19396, essv13785, essv19289, essv18601, essv21807, essv23978, essv18613, essv18062, essv57, essv3783, essv13424, essv7213, essv21727, essv11148, essv11193, essv3705, essv5282, essv14966, essv22168, essv15524, essv19521, essv18090, essv24724, essv1205, essv62, essv21824, essv19013, essv24852, essv3693, essv5541, essv17585, essv4862, essv23541, essv24038, essv11636, essv5097, essv9231, essv12408, essv17203, essv16695, essv588, essv2273, essv8736, essv9050, essv15735, essv15265, essv4390, essv16665, essv13484, essv8848, essv13649, essv12461, essv1096, essv17834, essv15215, essv18208, essv14984, essv12846, essv17331, essv18999, essv16860, essv10150, essv1878, essv17920, essv14287, essv24074, essv3012, essv15745, essv10221, essv8815, essv13455, essv9827, essv20360, essv20136, essv18737, essv5746, essv9186, essv21063, essv13862, essv7406, essv23547, essv21398, essv5271, essv469, essv2478, essv14051, essv2168, essv12711, essv6345, essv2250, essv21699, essv2037, essv20314, essv16490, essv4483, essv3311, essv3052, essv14341, essv13591, essv11499, essv11491, essv3753, essv11631, essv8336, essv3901, essv12970, essv12173, essv21378, essv2661, essv22236, essv12499, essv19918, essv19448, essv9627, essv19940, essv14183, essv6320, essv14969, essv13727, essv2655, essv1386, essv7375, essv15353, essv15150, essv16554, essv5173, essv286, essv158, essv13713, essv20598, essv24222, essv18769, essv1095, essv6221, essv10280, essv1359, essv11772, essv4910, essv20009, essv9634, essv6565, essv11738, essv899, essv17900, essv23446, essv1019, essv23439, essv5493, essv1529, essv19628, essv12210, essv18826, essv16946, essv18847, essv17762, essv20999, essv14752, essv11760, essv17115, essv10239, essv9702, essv2007, essv22563, essv18177, essv13800, essv22499, essv22583, essv16940, essv20171, essv20022, essv5524, essv14726

Samples

NA18998, NA19141, NA18621, NA18947, NA11829, NA18862, NA18861, NA18508, NA12814, NA18980, NA12236, NA18561, NA18999, NA19092, NA12751, NA12801, NA18504, NA12248, NA10857, NA18870, NA12155, NA12813, NA18967, NA18563, NA19127, NA19192, NA19171, NA19005, NA10854, NA19119, NA18860, NA18547, NA19131, NA18960, NA11992, NA07048, NA12762, NA18964, NA06993, NA19130, NA18949, NA18611, NA12005, NA19238, NA12044, NA19207, NA19128, NA18966, NA19159, NA19007, NA18951, NA19210, NA19120, NA19194, NA12003, NA10831, NA19152, NA18859, NA19205, NA18991, NA18529, NA18976, NA18503, NA11839, NA10838, NA18981, NA12234, NA18573, NA19142, NA19000, NA11840, NA18856, NA19154, NA18532, NA12145, NA19101, NA07345, NA19132, NA10856, NA18858, NA18593, NA19094, NA18978, NA18914, NA18632, NA11882, NA06991, NA12716, NA18961, NA18952, NA12864, NA18863, NA18540, NA12057, NA10859, NA19140, NA18913, NA19144, NA12874, NA07348, NA12740, NA19173, NA19211, NA18994, NA18636, NA18609, NA18506, NA18854, NA18972, NA18552, NA07056, NA18505, NA19129, NA18968, NA18624, NA18623, NA07000, NA07034, NA19153, NA18577, NA11832

Known Genes

AMER3, ANKRD30BL, ARHGEF4, C2orf27A, C2orf27B, CCDC115, CCDC74A, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P1, FAR2P2, GPR148, GPR39, IMP4, LINC01087, LINC01120, LOC150776, LOC389033, LOC401010, LOC440910, LOC646743, MED15P9, MIR4784, MIR663B, MZT2A, MZT2B, PLEKHB2, POTEE, POTEF, POTEI, POTEJ, POTEKP, PTPN18, RAB6C, RAB6C-AS1, RNU6-81P, SMPD4, TISP43, TUBA3D, TUBA3E, WTH3DI

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)

esv2757834

Frequency

Sample Size	270
Observed Gain	12
Observed Loss	111
Observed Complex	0
Frequency	n/a