Variant Details

Variant: esv2758535

Internal ID

9633994

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:18069029..19074200	hg38	UCSC Ensembl
Inner	chr22:18551795..19061713	hg19	UCSC Ensembl
Inner	chr22:16931795..17441713	hg18	UCSC Ensembl
Inner	chr22:16926349..17436267	hg17	UCSC Ensembl

Cytoband

22q11.21

Allele length

Assembly	Allele length
hg38	1005172
hg19	509919
hg18	509919
hg17	509919

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758824

Supporting Variants

essv6879, essv24865, essv17517, essv9148, essv4670, essv4570, essv22475, essv16936, essv2307, essv14639, essv47, essv18455, essv21176, essv16269, essv21039, essv21846, essv23390, essv6181, essv22067, essv2649, essv4146, essv22460, essv10830, essv827, essv557, essv10253, essv22526, essv8852, essv5743, essv23916, essv22812, essv8772, essv12254, essv2001, essv15649, essv6223, essv650, essv24590, essv23050, essv19526, essv22756, essv6702, essv16911, essv4433, essv1623, essv18192, essv11262, essv218, essv7126, essv4085, essv24653, essv11688, essv2201, essv21270, essv5934, essv166, essv10592, essv15404, essv17493, essv17338, essv10300, essv22334, essv23617, essv12701, essv770, essv19946, essv8645, essv5346, essv1725, essv17437, essv13679, essv21071, essv15843, essv1354, essv1899, essv20178, essv24262, essv1427, essv24048, essv485, essv15234, essv24700, essv22375, essv7387, essv17804, essv4184, essv9032, essv24996, essv13650, essv3806, essv19261, essv7619, essv18355, essv8352, essv2782, essv3276, essv2523, essv23335, essv5566, essv317, essv17726, essv17904, essv22931, essv23003, essv4915, essv22202, essv3475, essv20076, essv15788, essv3382, essv15151, essv7281, essv24913, essv2604

Samples

NA18998, NA11830, NA19203, NA11829, NA19204, NA18592, NA18508, NA12814, NA18524, NA18561, NA19092, NA18545, NA12004, NA18526, NA12750, NA07357, NA12813, NA18967, NA18563, NA19127, NA18944, NA18940, NA18550, NA12812, NA10854, NA19119, NA18635, NA18860, NA19131, NA18960, NA18942, NA11992, NA07048, NA12762, NA18949, NA12761, NA07019, NA12044, NA11994, NA18990, NA10855, NA19239, NA10839, NA18975, NA18973, NA19007, NA11831, NA18605, NA12003, NA10831, NA19152, NA12872, NA19161, NA18956, NA19205, NA18991, NA18529, NA18871, NA18976, NA18948, NA11839, NA10838, NA18537, NA18573, NA18856, NA18912, NA19154, NA18532, NA19101, NA18555, NA06985, NA19132, NA10856, NA18858, NA18593, NA18945, NA12043, NA18608, NA19094, NA19003, NA18914, NA11882, NA06991, NA18952, NA12864, NA12057, NA10859, NA19240, NA19144, NA18992, NA18943, NA06994, NA18971, NA19223, NA18987, NA19093, NA18636, NA18506, NA12875, NA18972, NA19129, NA18968, NA12006, NA18623, NA07000, NA12154, NA18622, NA11832, NA18997

Known Genes

DGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, GGT3P, PEX26, PRODH, TUBA8, USP18

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)

esv2758535

Frequency

Sample Size	270
Observed Gain	30
Observed Loss	80
Observed Complex	0
Frequency	n/a