Variant Details

Variant: esv2758414

Internal ID

9633873

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:21323135..21914912	hg38	UCSC Ensembl
Inner	chr16:21334456..21926233	hg19	UCSC Ensembl
Inner	chr16:21241957..21833734	hg18	UCSC Ensembl
Inner	chr16:21241957..21833734	hg17	UCSC Ensembl

Cytoband

16p12.1

Allele length

Assembly	Allele length
hg38	591778
hg19	591778
hg18	591778
hg17	591778

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758636

Supporting Variants

essv24904, essv16058, essv20260, essv8138, essv7389, essv12304, essv10054, essv13632, essv20589, essv15236, essv14499, essv13874, essv9076, essv18705, essv4477, essv19460, essv6019, essv24781, essv4082, essv20402, essv18942, essv1865, essv20072, essv18187, essv11241, essv7534, essv6307, essv22295, essv4957, essv6276, essv17107, essv16855, essv7826, essv5289, essv22665, essv24851, essv14300, essv23897, essv15108, essv17772, essv2092, essv17266, essv860, essv18104, essv8812, essv11963, essv9232, essv16995, essv2288, essv14772, essv22977, essv23588, essv19958, essv20994, essv25000, essv11517, essv12589, essv24492, essv12671, essv15624, essv4426, essv16202, essv15862, essv19579, essv3240, essv12225, essv344, essv3364, essv24696, essv9746, essv22911, essv18248, essv11717, essv16698, essv16150

Samples

NA11829, NA19204, NA18508, NA12814, NA18545, NA19098, NA07357, NA12813, NA19127, NA19171, NA10846, NA12802, NA18635, NA18558, NA07048, NA18571, NA19138, NA18949, NA12005, NA19128, NA18966, NA19159, NA10839, NA11993, NA12760, NA12752, NA19194, NA10831, NA19161, NA19205, NA18637, NA18976, NA18503, NA19202, NA18573, NA19142, NA19000, NA11840, NA10830, NA18912, NA19154, NA19099, NA19101, NA12144, NA06985, NA19132, NA18945, NA18974, NA19094, NA19206, NA06991, NA18517, NA12864, NA12057, NA18913, NA19100, NA19144, NA12874, NA18501, NA06994, NA18971, NA19223, NA19173, NA10860, NA18636, NA18500, NA18609, NA18854, NA18552, NA07056, NA19129, NA18624, NA12006, NA18623, NA07000

Known Genes

IGSF6, LOC100190986, LOC100271836, METTL9, NPIPB3, OTOA, RRN3P1, SLC7A5P2, SNX29P1

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)

esv2758414

Frequency

Sample Size	270
Observed Gain	70
Observed Loss	5
Observed Complex	0
Frequency	n/a