Variant Details

Variant: esv2758552

Internal ID

9980629

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:46259046..46302079	hg38	UCSC Ensembl
Inner	chr22:46654943..46697976	hg19	UCSC Ensembl
Inner	chr22:45033607..45076640	hg18	UCSC Ensembl
Inner	chr22:44975462..45018495	hg17	UCSC Ensembl

Cytoband

22q13.31

Allele length

Assembly	Allele length
hg38	43034
hg19	43034
hg18	43034
hg17	43034

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758844

Supporting Variants

essv1924, essv11418, essv1487, essv14347, essv21215, essv23842, essv14517, essv12240, essv8444, essv7614, essv23038, essv1148, essv10076, essv12478, essv15845, essv22852, essv17264, essv3181, essv2064, essv577, essv24369, essv16153, essv12743, essv13938, essv23131, essv11870, essv13185, essv24845, essv4552, essv23501, essv14155, essv24063, essv4495, essv5551, essv15714, essv10528, essv9721, essv10385, essv22391, essv5182, essv14591, essv4264, essv23261, essv11040, essv22433, essv17064, essv6964, essv6332, essv9872, essv1446, essv24901, essv4380, essv2858, essv1388, essv11105, essv10266, essv15213, essv10663, essv8826, essv11747, essv5016, essv2452, essv647, essv6249, essv6029, essv10243, essv16313, essv2355, essv8223, essv3718, essv23179, essv9434, essv12553, essv8179, essv14081, essv11989, essv22755, essv16548, essv6665, essv17321

Samples

NA18998, NA19222, NA11830, NA18947, NA18861, NA18508, NA18524, NA18980, NA18855, NA19145, NA18999, NA18603, NA18545, NA07029, NA18504, NA18959, NA19098, NA18944, NA18940, NA12812, NA12891, NA18582, NA18571, NA18964, NA18949, NA18611, NA12761, NA07019, NA12156, NA19207, NA19172, NA18975, NA19007, NA19210, NA12760, NA07022, NA19194, NA19152, NA18529, NA18516, NA18503, NA19208, NA19221, NA19202, NA18573, NA18856, NA18912, NA18857, NA19099, NA12707, NA19101, NA19012, NA18576, NA18608, NA18953, NA19094, NA18914, NA19206, NA18517, NA10859, NA19140, NA18913, NA19240, NA19100, NA19193, NA19143, NA06994, NA19223, NA19211, NA19093, NA18636, NA18609, NA18506, NA19102, NA12875, NA18854, NA19116, NA18552, NA07000, NA07034

Known Genes

GTSE1, GTSE1-AS1, PKDREJ, TTC38

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)

esv2758552

Frequency

Sample Size	270
Observed Gain	77
Observed Loss	3
Observed Complex	0
Frequency	n/a