Variant Details

Variant: esv2758453

Internal ID

9633912

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:37706608..38600766	hg38	UCSC Ensembl
Inner	chr17:36066615..36757019	hg19	UCSC Ensembl
Inner	chr17:33140728..34010545	hg18	UCSC Ensembl
Inner	chr17:33140728..34010545	hg17	UCSC Ensembl

Cytoband

17q12

Allele length

Assembly	Allele length
hg38	894159
hg19	690405
hg18	869818
hg17	869818

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758688

Supporting Variants

essv5555, essv18251, essv23466, essv67, essv1600, essv15856, essv14168, essv4065, essv1869, essv13760, essv6274, essv7327, essv19992, essv1231, essv5810, essv22357, essv21321, essv4864, essv10885, essv18856, essv24370, essv1093, essv24988, essv24004, essv17087, essv4370, essv16195, essv6175, essv3748, essv2905, essv4993, essv19665, essv10942, essv11961, essv19023, essv8462, essv18619, essv18440, essv16094, essv11452, essv6989, essv6572, essv10406, essv14481, essv20267, essv23520, essv10787, essv13443, essv5477, essv11866, essv8725, essv3868, essv12608, essv15718, essv13038, essv12209, essv20881, essv8932, essv2353, essv10155, essv24730, essv4284, essv23190, essv9437, essv776, essv5993, essv22775, essv4809, essv17341, essv9814, essv11233, essv5398, essv22921, essv8185, essv12496, essv4149, essv10222, essv6771, essv13177, essv1183, essv17544, essv18133, essv7116, essv23801, essv8385, essv19608, essv4655, essv14586, essv8167, essv15990, essv7716, essv15362, essv16923, essv10038, essv546, essv2093, essv12716, essv9167, essv14877, essv2460, essv21812, essv9018, essv15664, essv20191, essv14283, essv11531, essv13528, essv5093, essv16325, essv12993, essv5230, essv6881, essv16470, essv22133, essv21795, essv9366, essv23027, essv7381, essv4589, essv13615, essv3164, essv11677, essv8630, essv20998, essv13940, essv23356, essv17802, essv23833, essv23414, essv11802, essv11996, essv11003, essv7800, essv4702, essv16746, essv659, essv21291, essv133, essv12667, essv17977, essv3950, essv2545, essv14376, essv12781, essv245, essv14985, essv13689, essv14133, essv9735, essv19202, essv1750, essv15482, essv7193, essv1943, essv8833, essv3550, essv10558, essv9155, essv3093, essv18233, essv12384, essv15579, essv10467, essv15026, essv20668, essv17258, essv5210, essv4889, essv16480, essv22509, essv1502, essv3345, essv8313, essv9880, essv20766, essv14788, essv20435, essv24678, essv23670, essv16710, essv11143, essv7522, essv23579, essv14466, essv2266, essv15402, essv16834, essv9608, essv5048, essv7768, essv10352, essv17193, essv17433, essv20134

Samples

NA18998, NA18502, NA19141, NA19222, NA19203, NA18621, NA11829, NA19204, NA18862, NA18861, NA18508, NA18524, NA18980, NA18561, NA18507, NA19145, NA18999, NA18603, NA19092, NA12751, NA18545, NA12801, NA12146, NA18959, NA12865, NA10857, NA19098, NA18870, NA18633, NA12750, NA12155, NA18969, NA18563, NA19127, NA19192, NA19171, NA18940, NA12812, NA19201, NA10846, NA18995, NA10854, NA19119, NA18635, NA18860, NA18558, NA18547, NA19131, NA18942, NA07048, NA18571, NA12762, NA18964, NA06993, NA19130, NA18949, NA18611, NA12005, NA18970, NA07019, NA12156, NA19137, NA19238, NA19207, NA19172, NA19128, NA18966, NA19159, NA10855, NA19239, NA19209, NA10839, NA18975, NA19200, NA11993, NA11831, NA18951, NA18605, NA19210, NA12760, NA19120, NA07022, NA19194, NA12003, NA10863, NA10831, NA19152, NA12878, NA19161, NA18956, NA18859, NA18515, NA19205, NA18991, NA18529, NA18516, NA18637, NA18871, NA19103, NA18976, NA18948, NA18503, NA11839, NA12234, NA19208, NA19221, NA19202, NA18537, NA18566, NA18573, NA19142, NA10830, NA18856, NA18912, NA12892, NA19154, NA18857, NA18532, NA12239, NA18853, NA12264, NA19099, NA12707, NA19101, NA18555, NA07345, NA12144, NA18523, NA19160, NA19132, NA18570, NA18858, NA18945, NA19012, NA18576, NA12043, NA18953, NA19003, NA18914, NA18632, NA11882, NA19206, NA18542, NA06991, NA12716, NA18961, NA18517, NA18863, NA18540, NA12057, NA19140, NA18913, NA19240, NA19100, NA19144, NA19193, NA12763, NA18594, NA19143, NA18501, NA19223, NA19173, NA19211, NA18994, NA19093, NA18636, NA18521, NA18500, NA18506, NA19102, NA12875, NA18854, NA19116, NA18872, NA18852, NA18505, NA19129, NA18968, NA18624, NA19139, NA12006, NA18623, NA18522, NA07034, NA18612, NA18622, NA19153, NA18562, NA18965, NA18577, NA11832, NA18620, NA18997

Known Genes

ARHGAP23, GPR179, HNF1B, LOC440434, MRPL45, SOCS7, SRCIN1, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H, YWHAEP7

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)

esv2758453

Frequency

Sample Size	270
Observed Gain	139
Observed Loss	55
Observed Complex	0
Frequency	n/a