Variant Details

Variant: esv2758293

Internal ID

9633752

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:9218999..9770933	hg38	UCSC Ensembl
Inner	chr12:9371595..9923529	hg19	UCSC Ensembl
Inner	chr12:9262862..9814796	hg18	UCSC Ensembl
Inner	chr12:9262862..9814796	hg17	UCSC Ensembl

Cytoband

12p13.31

Allele length

Assembly	Allele length
hg38	551935
hg19	551935
hg18	551935
hg17	551935

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759878

Supporting Variants

essv11492, essv22573, essv7579, essv12737, essv15618, essv8297, essv4371, essv16840, essv11024, essv11206, essv24230, essv16047, essv11929, essv4482, essv4549, essv22135, essv17199, essv14609, essv24980, essv12813, essv23785, essv14366, essv24672, essv6383, essv2685, essv23073, essv18587, essv13835, essv19759, essv21044, essv22811, essv15476, essv12389, essv7367, essv16155, essv10450, essv13173, essv9988, essv2018, essv16423, essv5021, essv8175, essv24496, essv6115, essv11159, essv16538, essv10289, essv6754, essv10668, essv10808, essv3189, essv15785, essv15065, essv16759, essv15557, essv7235, essv15425, essv5239, essv11419, essv2988, essv18239, essv2474, essv13697, essv12484, essv15254, essv12672, essv9375, essv1253, essv13463, essv9757, essv21194, essv17430, essv21990, essv8478, essv4615, essv3802, essv20949, essv2875, essv20145, essv8187, essv5319, essv3854, essv12250, essv9935, essv8753, essv10815, essv12599, essv18936, essv9732, essv21376, essv5489, essv8799, essv23606

Samples

NA18502, NA11830, NA19203, NA11995, NA11829, NA19204, NA18508, NA18524, NA18855, NA19145, NA18999, NA19092, NA18545, NA12004, NA12801, NA10857, NA19098, NA18967, NA18563, NA19192, NA19171, NA12812, NA10835, NA18995, NA12802, NA19119, NA18547, NA19131, NA18949, NA12005, NA19137, NA19238, NA19207, NA10839, NA19210, NA19120, NA19194, NA18515, NA19205, NA18516, NA18871, NA19103, NA18572, NA18981, NA12234, NA18573, NA18912, NA18857, NA18532, NA18853, NA19099, NA19101, NA07345, NA18523, NA10856, NA18570, NA18974, NA18576, NA12043, NA18953, NA19094, NA18914, NA18632, NA19206, NA06991, NA18863, NA12057, NA18913, NA19100, NA18943, NA07348, NA12763, NA18594, NA19143, NA18501, NA12740, NA19173, NA19211, NA18994, NA19093, NA18500, NA18506, NA19102, NA18854, NA19116, NA18872, NA18552, NA18505, NA19129, NA18624, NA19139, NA12006, NA18562

Known Genes

A2MP1, CD69, CLEC2D, CLECL1, DDX12P, KLRB1, LINC00987, LOC374443, LOC642846, MIR1244-1, MIR1244-2, MIR1244-3

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)

esv2758293

Frequency

Sample Size	270
Observed Gain	93
Observed Loss	0
Observed Complex	0
Frequency	n/a