A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991613



Internal ID41203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29299984..29300053hg38UCSC Ensembl
chr22:29695974..29696043hg19UCSC Ensembl
chr22:28025974..28026043hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3568526
SamplesHuRef
Known GenesEWSR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991613
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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