A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1410721



Internal ID12227157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17876821..17877136hg38UCSC Ensembl
chr22:18359587..18359902hg19UCSC Ensembl
chr22:16739587..16739902hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38316
hg19316
hg18316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3938109
SamplesHuRef
Known GenesMICAL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1410721
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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