A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893431



Internal ID19184251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18927834..19002615hg38UCSC Ensembl
Outerchr22:18874235..19031473hg38UCSC Ensembl
Innerchr22:18915347..18990128hg19UCSC Ensembl
Outerchr22:18861748..19018986hg19UCSC Ensembl
Innerchr22:17295347..17370128hg18UCSC Ensembl
Outerchr22:17241748..17398986hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38157239
hg19157239
hg18157239
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789996, essv25792539, essv25791449, essv25790517, essv25791489, essv25790882, essv25790144, essv25789493, essv25789194, essv25792498, essv25791639, essv25792318, essv25791981, essv25787917, essv25789699, essv25778964, essv25787897, essv25797012, essv25791407, essv25790282, essv25791453, essv25789252, essv25788039, essv25799457, essv25788961, essv25784251, essv25792772, essv25789087, essv25790431, essv25790975, essv25784784, essv25789686, essv25791481, essv25792625, essv25789147, essv25783162, essv25790207, essv25791970, essv25791916, essv25789619, essv25788973, essv25792852, essv25799207, essv25788508, essv25791384, essv25790900, essv25791216, essv25799396, essv25788410, essv25789062, essv25792821, essv25788074, essv25788832, essv25788945, essv25787900, essv25787273, essv25797513, essv25793042
Samples
Known GenesDGCR10, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893431
Frequency
Sample Size3017
Observed Gain48
Observed Loss10
Observed Complex0
Frequencyn/a


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