Variant Details

Variant: esv2757986

Internal ID

9633445

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:17364591..17936295	hg38	UCSC Ensembl
Inner	chr5:17364700..17936404	hg19	UCSC Ensembl
Inner	chr5:17417700..17972161	hg18	UCSC Ensembl
Inner	chr5:17417700..17972161	hg17	UCSC Ensembl

Cytoband

5p15.1

Allele length

Assembly	Allele length
hg38	571705
hg19	571705
hg18	554462
hg17	554462

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759328

Supporting Variants

essv1255, essv24560, essv2806, essv7233, essv15995, essv18153, essv16483, essv4204, essv22139, essv16209, essv1020, essv459, essv13906, essv3150, essv15100, essv5599, essv6031, essv2239, essv22213, essv9107, essv229, essv13547, essv5941, essv11736, essv9237, essv18854, essv7537, essv18256, essv17062, essv17955, essv16461, essv13783, essv4466, essv21390, essv1192, essv10559, essv696, essv5057, essv2633, essv3451, essv15660, essv14335, essv2853, essv12977, essv13083, essv15754, essv2031, essv4230, essv3267, essv17599, essv12351, essv15608, essv8100, essv24986, essv16974, essv12212, essv22518, essv12749, essv1113, essv7708, essv4158, essv16793, essv19293, essv12501, essv3358, essv3822, essv24397, essv14770, essv547, essv18198, essv6762, essv5242, essv14515, essv12594, essv10170, essv17175, essv920, essv22340, essv9713, essv2484, essv21719, essv11616, essv7420, essv23604, essv17576, essv20292, essv18924, essv10727, essv2222, essv20, essv12381, essv5143, essv8459, essv20605, essv11132, essv21784, essv814, essv6284, essv17236, essv382, essv124

Samples

NA18998, NA18999, NA18603, NA12751, NA18545, NA18504, NA12248, NA10857, NA19098, NA18526, NA18633, NA18967, NA19171, NA19005, NA18550, NA10846, NA18995, NA18860, NA18547, NA19131, NA18960, NA11992, NA18571, NA12762, NA19138, NA18964, NA19130, NA18949, NA12005, NA19137, NA19238, NA12044, NA19207, NA19172, NA19128, NA18966, NA19159, NA10839, NA18975, NA18973, NA11993, NA18951, NA19210, NA19194, NA12753, NA12003, NA19161, NA18859, NA18991, NA18529, NA18516, NA18948, NA18503, NA10838, NA19202, NA19000, NA18912, NA19154, NA12239, NA12707, NA19101, NA18555, NA12144, NA06985, NA18523, NA19160, NA18945, NA19012, NA18576, NA18953, NA18914, NA11882, NA19206, NA18952, NA18564, NA12057, NA18913, NA19240, NA19144, NA18992, NA18943, NA18501, NA12740, NA18971, NA18987, NA19211, NA18636, NA18854, NA18972, NA18872, NA18552, NA18852, NA07056, NA19129, NA18968, NA18624, NA19139, NA12006, NA18623, NA19153, NA18562

Known Genes

LOC401177

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)

esv2757986

Frequency

Sample Size	270
Observed Gain	56
Observed Loss	45
Observed Complex	0
Frequency	n/a