A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989237



Internal ID7076051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38201294..38213896hg38UCSC Ensembl
Outerchr22:38597301..38609903hg19UCSC Ensembl
Outerchr22:36927247..36939849hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3812603
hg1912603
hg1812603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564007
SamplesHuRef
Known GenesMAFF
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989237
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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