A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3893465

Internal ID

18837599

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:25360196..25493418	hg38	UCSC Ensembl
Outer	chr22:25254439..25577697	hg38	UCSC Ensembl
Inner	chr22:25756163..25889385	hg19	UCSC Ensembl
Outer	chr22:25650406..25973664	hg19	UCSC Ensembl
Inner	chr22:24086163..24219385	hg18	UCSC Ensembl
Outer	chr22:23980406..24303664	hg18	UCSC Ensembl

Cytoband

22q11.23

Allele length

Assembly	Allele length
hg38	323259
hg19	323259
hg18	323259

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

essv25788321, essv25788186, essv25791419, essv25783611, essv25787515, essv25788202, essv25790055, essv25785845, essv25785459, essv25792606, essv25786783, essv25792988, essv25781895, essv25781277, essv25785688, essv25789028, essv25788283, essv25781941, essv25781346, essv25783496, essv25791484, essv25787877, essv25792566, essv25792528, essv25792354, essv25778307, essv25800936, essv25788316, essv25788144, essv25788362, essv25786726, essv25788053, essv25791265, essv25788114, essv25792530, essv25787869, essv25789929, essv25788349, essv25797038, essv25793046, essv25790671, essv25788556, essv25791908, essv25790530, essv25787989, essv25790300, essv25778724, essv25796290, essv25790746, essv25797221, essv25793064, essv25791201, essv25788850, essv25791595, essv25788873, essv25789517, essv25797517, essv25790399, essv25790833, essv25778719, essv25788105, essv25781661, essv25788148, essv25782656, essv25792597, essv25788075, essv25791153, essv25790999, essv25788220, essv25792857, essv25787974, essv25792850, essv25792607, essv25791882, essv25788730, essv25788999, essv25789752, essv25788287, essv25788061, essv25791802, essv25796030, essv25784466, essv25789167, essv25788042, essv25797296, essv25789379, essv25797182, essv25786288, essv25788420, essv25797102, essv25784209, essv25788005, essv25791482, essv25791198, essv25791832, essv25787763, essv25780178, essv25796377, essv25793063, essv25788787, essv25785773, essv25789491, essv25790705, essv25788459

Samples

Known Genes

ADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817

Method

SNP array

Analysis

Platform

Illumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress

Comments

Reference

Suktitipat_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	3017
Observed Gain	72
Observed Loss	32
Observed Complex	0
Frequency	n/a