A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893465



Internal ID18837599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25360196..25493418hg38UCSC Ensembl
Outerchr22:25254439..25577697hg38UCSC Ensembl
Innerchr22:25756163..25889385hg19UCSC Ensembl
Outerchr22:25650406..25973664hg19UCSC Ensembl
Innerchr22:24086163..24219385hg18UCSC Ensembl
Outerchr22:23980406..24303664hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38323259
hg19323259
hg18323259
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785459, essv25792988, essv25781895, essv25791201, essv25797038, essv25791832, essv25789167, essv25786783, essv25797296, essv25788287, essv25796377, essv25788005, essv25785688, essv25790055, essv25783496, essv25788075, essv25778719, essv25789491, essv25788349, essv25792597, essv25791595, essv25788850, essv25797102, essv25787974, essv25800936, essv25784466, essv25783611, essv25788186, essv25788061, essv25791153, essv25792354, essv25781941, essv25789379, essv25792530, essv25788873, essv25791484, essv25787877, essv25788362, essv25792850, essv25792528, essv25778307, essv25788148, essv25785773, essv25784209, essv25790671, essv25791482, essv25788114, essv25793064, essv25792606, essv25782656, essv25788042, essv25797517, essv25788202, essv25786726, essv25796290, essv25791419, essv25789517, essv25788321, essv25790705, essv25788999, essv25790530, essv25797182, essv25793046, essv25778724, essv25788283, essv25787763, essv25790746, essv25788105, essv25792607, essv25789028, essv25791802, essv25788316, essv25780178, essv25789929, essv25797221, essv25788556, essv25790833, essv25788730, essv25785845, essv25781277, essv25788459, essv25790399, essv25787989, essv25787515, essv25792566, essv25796030, essv25787869, essv25781661, essv25786288, essv25791198, essv25792857, essv25788787, essv25789752, essv25793063, essv25788420, essv25790999, essv25791882, essv25788220, essv25788053, essv25791908, essv25788144, essv25791265, essv25781346, essv25790300
Samples
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893465
Frequency
Sample Size3017
Observed Gain72
Observed Loss32
Observed Complex0
Frequencyn/a


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