Variant Details

Variant: esv2758303

Internal ID

9633762

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:30972532..31338170	hg38	UCSC Ensembl
Inner	chr12:31125467..31491104	hg19	UCSC Ensembl
Inner	chr12:31016734..31382371	hg18	UCSC Ensembl
Inner	chr12:31016734..31382371	hg17	UCSC Ensembl

Cytoband

12p11.21

Allele length

Assembly	Allele length
hg38	365639
hg19	365638
hg18	365638
hg17	365638

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759890

Supporting Variants

essv11137, essv5474, essv15422, essv12805, essv8278, essv8213, essv8438, essv5373, essv4453, essv13176, essv18922, essv8791, essv13055, essv12483, essv10463, essv2964, essv2084, essv21402, essv13667, essv12620, essv6775, essv16813, essv10799, essv4661, essv2867, essv16075, essv11044, essv10630, essv12590, essv10873, essv14368, essv11225, essv21986, essv17446, essv24287, essv11952, essv14616, essv17177, essv4397, essv2637, essv5050, essv4580, essv8761, essv18827, essv15668, essv11573, essv3241, essv16901, essv19291, essv7323, essv23206, essv21179, essv20143, essv12170, essv24712, essv23041, essv9326, essv13442, essv16545, essv15071, essv23827, essv22099, essv15251, essv17890, essv7211, essv812, essv1263, essv9812, essv11833, essv9718, essv16089

Samples

NA18502, NA11830, NA19203, NA11995, NA11829, NA19204, NA18508, NA18524, NA18855, NA19092, NA12751, NA10857, NA19098, NA18967, NA18563, NA19192, NA19171, NA12812, NA18995, NA19119, NA18547, NA18949, NA12005, NA12156, NA19207, NA18973, NA19210, NA19120, NA19194, NA12003, NA18515, NA19205, NA18516, NA18871, NA19103, NA10838, NA18981, NA18573, NA18912, NA18853, NA19101, NA07345, NA18523, NA10856, NA18570, NA18974, NA18576, NA12043, NA18953, NA19094, NA18632, NA18863, NA18913, NA19100, NA12763, NA18594, NA19143, NA18501, NA12740, NA19173, NA19211, NA19093, NA18521, NA18500, NA19102, NA19116, NA18872, NA18552, NA18852, NA19129, NA18562

Known Genes

DDX11, DDX11-AS1, FAM60A, FLJ13224, TSPAN11

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)

esv2758303

Frequency

Sample Size	270
Observed Gain	71
Observed Loss	0
Observed Complex	0
Frequency	n/a