Variant Details

Variant: esv2758147

Internal ID

9633606

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:6874198..8449233	hg38	UCSC Ensembl
Inner	chr8:6731720..8306743	hg19	UCSC Ensembl
Inner	chr8:6719130..8344153	hg18	UCSC Ensembl
Inner	chr8:6719130..8344153	hg17	UCSC Ensembl

Cytoband

8p23.1

Allele length

Assembly	Allele length
hg38	1575036
hg19	1575024
hg18	1625024
hg17	1625024

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759589

Supporting Variants

essv13520, essv2502, essv4449, essv22934, essv24769, essv19014, essv14350, essv4306, essv18666, essv14994, essv17740, essv5544, essv578, essv23999, essv23172, essv20044, essv41, essv7336, essv19922, essv2986, essv19491, essv1885, essv10384, essv5168, essv17908, essv21283, essv11568, essv22860, essv14179, essv5330, essv3302, essv21740, essv2221, essv1634, essv21856, essv11116, essv6174, essv23783, essv8457, essv5064, essv12504, essv3155, essv11279, essv4382, essv4272, essv7754, essv21555, essv21794, essv15355, essv8149, essv5505, essv15665, essv10527, essv7718, essv17172, essv15219, essv3734, essv1777, essv7161, essv17546, essv24138, essv8364, essv9879, essv21994, essv6663, essv3212, essv13412, essv4672, essv7590, essv2046, essv16658, essv3107, essv22086, essv4578, essv20970, essv9243, essv165, essv20780, essv20225, essv9603, essv14707, essv16542, essv5095, essv15052, essv10039, essv11900, essv13931, essv23334, essv16168, essv3091, essv19447, essv14083, essv13777, essv11871, essv16507, essv14419, essv10408, essv22383, essv13025, essv20176, essv16249, essv1481, essv6304, essv15092, essv11086, essv12370, essv9117, essv10439, essv9760, essv2536, essv6756, essv19246, essv3485, essv1611, essv4190, essv21038, essv14510, essv5916, essv13204, essv7031, essv6000, essv16350, essv493, essv17530, essv14582, essv11202, essv13662, essv400, essv24375, essv24912, essv446, essv23217, essv7819, essv8723, essv10677, essv22550, essv22161

Samples

NA18998, NA18502, NA19141, NA19222, NA11995, NA19204, NA18862, NA18861, NA18524, NA18980, NA18855, NA19145, NA18603, NA19092, NA18545, NA12801, NA12248, NA12146, NA10857, NA18870, NA18526, NA18633, NA12750, NA07357, NA18969, NA12813, NA18563, NA19192, NA19171, NA18550, NA19201, NA19119, NA18860, NA18558, NA18547, NA18960, NA18942, NA07048, NA18571, NA12762, NA19138, NA18949, NA12005, NA12156, NA19207, NA19128, NA19159, NA10855, NA10847, NA19210, NA12760, NA19194, NA12003, NA10831, NA19161, NA18859, NA18515, NA18991, NA18529, NA18516, NA18976, NA11839, NA10838, NA18981, NA12234, NA19221, NA19202, NA18573, NA19142, NA11840, NA18912, NA18532, NA12239, NA19099, NA12707, NA12144, NA19160, NA18570, NA18858, NA19012, NA18974, NA18576, NA18608, NA19094, NA19003, NA18632, NA19206, NA18542, NA06991, NA12716, NA18961, NA18952, NA12864, NA18863, NA18564, NA19140, NA19240, NA19100, NA12873, NA18992, NA19193, NA07348, NA12763, NA06994, NA18971, NA19173, NA19211, NA10860, NA18609, NA19102, NA12875, NA18854, NA18972, NA18552, NA19129, NA18968, NA12154, NA18612, NA18622, NA19153, NA18562, NA18577, NA11832, NA18997

Known Genes

DEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, DEFT1P, DEFT1P2, FAM66B, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SGK223, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G

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)

esv2758147

Frequency

Sample Size	270
Observed Gain	82
Observed Loss	47
Observed Complex	0
Frequency	n/a