A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3891902

Internal ID

18839612

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:133470594..133536297	hg38	UCSC Ensembl
Outer	chr10:133432340..133588696	hg38	UCSC Ensembl
Inner	chr10:135284098..135349801	hg19	UCSC Ensembl
Outer	chr10:135245844..135402200	hg19	UCSC Ensembl
Inner	chr10:135134088..135199791	hg18	UCSC Ensembl
Outer	chr10:135095834..135252190	hg18	UCSC Ensembl

Cytoband

10q26.3

Allele length

Assembly	Allele length
hg38	156357
hg19	156357
hg18	156357

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

essv25787775, essv25791613, essv25787966, essv25787909, essv25789576, essv25788056, essv25791005, essv25791988, essv25789045, essv25797998, essv25790185, essv25789779, essv25789595, essv25789278, essv25788745, essv25789878, essv25788087, essv25788861, essv25790755, essv25788142, essv25789466, essv25788150, essv25780087, essv25788059, essv25788149, essv25788193, essv25788127, essv25790093, essv25788654, essv25788872, essv25788266, essv25790343, essv25789527, essv25787827, essv25789651, essv25788836, essv25796274, essv25788256, essv25787847, essv25789600, essv25788231, essv25788125, essv25788319, essv25792957, essv25788234, essv25788242, essv25788260, essv25787933, essv25791203, essv25787894, essv25789709, essv25790279, essv25791565, essv25788299, essv25788880, essv25789684, essv25788255, essv25790199, essv25790216, essv25790884, essv25792696, essv25789095, essv25787819, essv25788250, essv25791361, essv25796265, essv25792911, essv25792856, essv25792007, essv25790649

Samples

Known Genes

CYP2E1, SCART1, SPRNP1, SYCE1

Method

SNP array

Analysis

Platform

Illumina HumanHap 610
Illumina Human OmniExpress

Comments

Reference

Suktitipat_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	3017
Observed Gain	66
Observed Loss	4
Observed Complex	0
Frequency	n/a