Variant Details

Variant: esv2757755

Internal ID

9633214

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:152500363..152925677	hg38	UCSC Ensembl
Inner	chr1:152472839..152898153	hg19	UCSC Ensembl
Inner	chr1:150739463..151164777	hg18	UCSC Ensembl
Inner	chr1:149285912..149711226	hg17	UCSC Ensembl

Cytoband

1q21.3

Allele length

Assembly	Allele length
hg38	425315
hg19	425315
hg18	425315
hg17	425315

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758970

Supporting Variants

essv15143, essv22655, essv22486, essv19537, essv2099, essv9604, essv17068, essv11425, essv24562, essv17307, essv20799, essv266, essv16511, essv15529, essv15432, essv5723, essv8933, essv3306, essv24817, essv11002, essv13747, essv3900, essv13889, essv2842, essv1123, essv15662, essv10625, essv13647, essv23125, essv21509, essv9026, essv12849, essv13516, essv2993, essv1524, essv7812, essv23597, essv21452, essv10077, essv558, essv16142, essv16657, essv21007, essv11723, essv7292, essv24506, essv20565, essv2499, essv17209, essv6828, essv6024, essv18170, essv13141, essv22558, essv1277, essv11742, essv16842, essv818, essv21373, essv20282, essv16411, essv6569, essv19642, essv1625, essv4754, essv4622, essv18109, essv23205, essv10323, essv16789, essv4917, essv15727, essv5149, essv13054, essv23769, essv12217, essv18589, essv24148, essv24989, essv12570, essv671, essv1733, essv3135, essv16324, essv24652, essv5321, essv8653, essv19087, essv23881, essv4837, essv4087, essv4597, essv18758, essv20328, essv24902, essv18837, essv4969, essv21128, essv6255, essv2188, essv3194, essv1455, essv12458, essv21762, essv10805, essv2454, essv2277, essv20085, essv7028, essv5177, essv18927, essv5278, essv5116, essv11520, essv10247, essv123, essv11099, essv448, essv20883, essv20650, essv17732, essv8122, essv12366, essv14165, essv1167, essv10158, essv16944, essv49, essv18275, essv22054, essv5526, essv17449, essv24236, essv13671, essv14339, essv2314, essv23040, essv5460

Samples

NA18998, NA19141, NA12717, NA19203, NA18621, NA11829, NA18592, NA12814, NA18524, NA18980, NA18855, NA12236, NA18561, NA18999, NA12751, NA12801, NA18504, NA12146, NA19098, NA12155, NA18969, NA18563, NA19127, NA19171, NA18944, NA18940, NA12812, NA10846, NA18995, NA12802, NA19119, NA18635, NA12891, NA18558, NA19131, NA18960, NA18942, NA11992, NA07048, NA18571, NA19138, NA18964, NA19130, NA18949, NA18611, NA12005, NA12156, NA19207, NA19172, NA18966, NA12815, NA19239, NA10839, NA18975, NA18973, NA19200, NA11993, NA10847, NA18951, NA19210, NA12752, NA19120, NA19194, NA19152, NA12872, NA19205, NA18991, NA18529, NA18637, NA18579, NA18981, NA12234, NA19142, NA18856, NA18912, NA12892, NA19154, NA18857, NA12239, NA19099, NA19101, NA12144, NA18523, NA19160, NA19132, NA10856, NA18593, NA18974, NA12043, NA18953, NA19003, NA18978, NA18632, NA11882, NA19206, NA06991, NA18952, NA12864, NA18540, NA18564, NA12057, NA19140, NA19100, NA12873, NA19144, NA19193, NA12874, NA07348, NA12763, NA07055, NA18594, NA19143, NA12740, NA06994, NA19173, NA19211, NA18994, NA10860, NA18636, NA18506, NA19102, NA18854, NA18972, NA18872, NA18852, NA07056, NA18505, NA19129, NA18968, NA18624, NA19139, NA12006, NA12154, NA18612, NA19153, NA18577, NA18620, NA18997

Known Genes

C1orf68, CRCT1, IVL, KPRP, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, SMCP

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)

esv2757755

Frequency

Sample Size	270
Observed Gain	58
Observed Loss	80
Observed Complex	0
Frequency	n/a