A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893473



Internal ID18837607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29474962..29528836hg38UCSC Ensembl
Outerchr22:29474962..29528836hg38UCSC Ensembl
Innerchr22:29870951..29924825hg19UCSC Ensembl
Outerchr22:29870951..29924825hg19UCSC Ensembl
Innerchr22:28200951..28254825hg18UCSC Ensembl
Outerchr22:28200951..28254825hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3853875
hg1953875
hg1853875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25779642
Samples
Known GenesNEFH, THOC5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893473
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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