A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999455



Internal ID7064974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50082193..50082254hg38UCSC Ensembl
chr22:50520622..50520683hg19UCSC Ensembl
chr22:48862749..48862810hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3568447
SamplesHuRef
Known GenesMLC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999455
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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