A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1048298



Internal ID11864737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17877234..17877369hg38UCSC Ensembl
chr22:18360000..18360135hg19UCSC Ensembl
chr22:16740000..16740135hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4218709
SamplesHuRef
Known GenesMICAL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1048298
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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