Variant Details

Variant: esv2757998

Internal ID

9633457

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:69778293..71500057	hg38	UCSC Ensembl
Inner	chr5:69074120..70795884	hg19	UCSC Ensembl
Inner	chr5:69109876..70831640	hg18	UCSC Ensembl
Inner	chr5:69109876..70831640	hg17	UCSC Ensembl

Cytoband

5q13.2

Allele length

Assembly	Allele length
hg38	1721765
hg19	1721765
hg18	1721765
hg17	1721765

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759348

Supporting Variants

essv9809, essv7765, essv24056, essv589, essv1941, essv4621, essv14782, essv18392, essv1260, essv7398, essv5930, essv11969, essv8115, essv16799, essv4823, essv23327, essv19543, essv23394, essv20784, essv16996, essv12592, essv21557, essv11756, essv673, essv21437, essv15750, essv2338, essv11957, essv17604, essv13848, essv6993, essv2182, essv4435, essv4354, essv24687, essv22231, essv279, essv19957, essv24500, essv2274, essv15020, essv8102, essv13895, essv13589, essv15455, essv17271, essv9696, essv21729, essv14587, essv12670, essv21393, essv12780, essv13097, essv12728, essv18337, essv24857, essv22470, essv24001, essv3347, essv15033, essv10480, essv15603, essv1434, essv22936, essv4551, essv351, essv22586, essv22080, essv21800, essv10589, essv22431, essv18136, essv20580, essv1607, essv1761, essv20052, essv17660, essv3237, essv24407, essv6652, essv17045, essv16712, essv22847, essv15308, essv13686, essv24150, essv6265, essv21815, essv7216, essv3557, essv46, essv1483, essv19004, essv24227, essv22107, essv10202, essv17492, essv16312, essv14445, essv17457, essv6309, essv15273, essv23652, essv10103, essv9432, essv19096, essv17140, essv1412, essv3121, essv154, essv9362, essv13568, essv21322, essv21998, essv10634, essv19619, essv2865, essv13788, essv11646, essv23033, essv16073, essv21267, essv9105, essv4262, essv19385, essv233, essv8598, essv20168, essv5227, essv9180, essv23257, essv13030, essv9098, essv2015, essv5552, essv7798, essv24477, essv22298, essv14861, essv18714, essv4010, essv23933, essv20274, essv21066, essv20660, essv2830, essv23595, essv19773, essv11007, essv23185, essv18449, essv5996, essv5812, essv8468, essv6731, essv10811, essv2572, essv16491, essv4979, essv11216, essv19675, essv6871, essv24764, essv7074, essv10389, essv17721, essv4769, essv23813, essv17022, essv4024, essv24977, essv18163, essv14486, essv19173, essv18860, essv20907, essv22483, essv23504, essv12162, essv20352, essv10827, essv21224, essv796, essv5315, essv18662, essv4716

Samples

NA18998, NA18502, NA12717, NA19222, NA11830, NA11995, NA11829, NA19204, NA18862, NA12814, NA18524, NA18980, NA18855, NA12236, NA18603, NA12751, NA07029, NA12004, NA12801, NA18504, NA12248, NA12146, NA18959, NA12865, NA10857, NA19098, NA18870, NA12750, NA12155, NA07357, NA18969, NA12813, NA18563, NA19127, NA19171, NA18944, NA18940, NA18550, NA12812, NA19201, NA10835, NA18995, NA10854, NA12802, NA19119, NA18635, NA18860, NA18558, NA18547, NA19131, NA18960, NA18942, NA07048, NA18571, NA12762, NA19130, NA18949, NA18611, NA12761, NA12005, NA18970, NA12156, NA19137, NA12044, NA11994, NA19172, NA19128, NA18966, NA19159, NA18990, NA10855, NA19239, NA10839, NA18975, NA11993, NA19007, NA11831, NA10847, NA18605, NA19210, NA19120, NA12753, NA10863, NA19152, NA12878, NA12872, NA18956, NA18859, NA18515, NA18991, NA18529, NA18516, NA18637, NA18871, NA18948, NA18503, NA11839, NA12234, NA19208, NA19202, NA18537, NA18566, NA18573, NA19142, NA11840, NA12249, NA12056, NA12892, NA19154, NA12239, NA18853, NA12264, NA12707, NA19101, NA12144, NA06985, NA18523, NA19160, NA19132, NA10856, NA18945, NA18974, NA12043, NA18608, NA18953, NA19094, NA18978, NA18914, NA11882, NA19206, NA18542, NA06991, NA12716, NA11881, NA18517, NA12864, NA18863, NA18540, NA12057, NA10859, NA18913, NA19240, NA12873, NA19144, NA10861, NA19193, NA12874, NA07348, NA12763, NA07055, NA18594, NA19143, NA18501, NA12740, NA18971, NA18987, NA19093, NA10860, NA18636, NA18500, NA18609, NA18854, NA18872, NA18552, NA18852, NA07056, NA18505, NA19129, NA18968, NA12006, NA18623, NA07000, NA18522, NA12154, NA07034, NA18612, NA18622, NA19153, NA18562, NA18965, NA11832, NA18620, NA18997

Known Genes

BDP1, GTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, LOC647859, NAIP, PMCHL2, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2

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)

esv2757998

Frequency

Sample Size	270
Observed Gain	161
Observed Loss	23
Observed Complex	0
Frequency	n/a