Variant Details

Variant: esv2757954

Internal ID

9980031

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:130940922..132084329	hg38	UCSC Ensembl
Inner	chr4:131862077..133005484	hg19	UCSC Ensembl
Inner	chr4:132081527..133224934	hg18	UCSC Ensembl
Inner	chr4:132219682..133363089	hg17	UCSC Ensembl

Cytoband

4q28.3

Allele length

Assembly	Allele length
hg38	1143408
hg19	1143408
hg18	1143408
hg17	1143408

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759282

Supporting Variants

essv18159, essv2868, essv5104, essv17784, essv15782, essv16194, essv13868, essv115, essv7036, essv592, essv7758, essv6597, essv10666, essv12692, essv22813, essv8805, essv3136, essv17968, essv10462, essv4144, essv10288, essv18444, essv5593, essv15141, essv16743, essv7278, essv9700, essv14139, essv1172, essv682, essv12465, essv23214, essv14895, essv12854, essv302, essv3774, essv16862, essv1035, essv9079, essv17000, essv3997, essv23435, essv14059, essv3405, essv8477, essv17319, essv3722, essv15547, essv3547, essv23506, essv17164, essv10903, essv19440, essv18949, essv4630, essv7151, essv3798, essv6946, essv214, essv1433, essv19633, essv10206, essv908, essv1938, essv10002, essv15319, essv13193, essv21289, essv12301, essv6168, essv24426, essv18838, essv15681, essv1618, essv21166, essv5388, essv19222, essv17561, essv12760, essv24731, essv7357, essv11501, essv5190, essv11080, essv20426, essv20619, essv9228, essv9338, essv24878, essv14732, essv14463, essv11032, essv8325, essv3213, essv11652, essv21417, essv21377, essv10097, essv5722, essv9923, essv6003, essv14384, essv20658, essv20279, essv5265, essv13451, essv7613, essv2017, essv17700, essv1246, essv487, essv8335, essv2248, essv843, essv21323, essv4043, essv1877, essv2680, essv11976, essv24595, essv15530, essv13765, essv22106, essv21674, essv13039, essv4874, essv5786, essv6840, essv16395, essv11924, essv9426, essv6782, essv12607, essv1763, essv24292, essv8249, essv2784, essv7372, essv18287, essv24786, essv16630

Samples

NA18998, NA18502, NA12717, NA11830, NA18621, NA18947, NA11829, NA18862, NA18861, NA18592, NA18508, NA18855, NA18561, NA18507, NA19145, NA12751, NA18545, NA12004, NA12248, NA18959, NA10857, NA19098, NA12155, NA18969, NA18967, NA18563, NA19192, NA19171, NA19005, NA18944, NA19201, NA10846, NA18995, NA10854, NA18635, NA18547, NA19131, NA18942, NA11992, NA18582, NA18571, NA12762, NA19138, NA19130, NA18949, NA18611, NA12005, NA18970, NA12156, NA19137, NA19207, NA19128, NA18966, NA19159, NA10855, NA19209, NA18975, NA18973, NA11993, NA11831, NA18951, NA19120, NA12003, NA10831, NA19152, NA12878, NA12872, NA19161, NA18515, NA19205, NA18529, NA18516, NA18579, NA19103, NA18976, NA18948, NA10838, NA19208, NA18566, NA19142, NA19000, NA11840, NA10830, NA18856, NA18912, NA12892, NA19154, NA18532, NA18853, NA19099, NA12707, NA18555, NA12144, NA19132, NA10856, NA18570, NA18858, NA18593, NA18945, NA18974, NA18953, NA18978, NA18914, NA18542, NA18961, NA18952, NA18517, NA19140, NA18913, NA19144, NA18943, NA18594, NA19143, NA12740, NA19173, NA18987, NA19211, NA10860, NA18500, NA18506, NA19102, NA18854, NA19116, NA18872, NA18852, NA07056, NA18505, NA19129, NA18968, NA18624, NA19139, NA18623, NA07000, NA18522, NA07034, NA18612, NA19153, NA18562, NA18965, NA18577, NA18997

Known Genes

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)

esv2757954

Frequency

Sample Size	270
Observed Gain	140
Observed Loss	1
Observed Complex	0
Frequency	n/a