A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3566128



Internal ID7037510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23683430..23685350hg38UCSC Ensembl
chr22:24025617..24027537hg19UCSC Ensembl
chr22:22355617..22357537hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381921
hg191921
hg181921
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003785
Supporting Variants
SamplesHuRef
Known GenesGUSBP11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3566128
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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