A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996809



Internal ID6732751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113160789..113174565hg38UCSC Ensembl
Outerchr12:113598594..113612370hg19UCSC Ensembl
Outerchr12:112082977..112096753hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3813777
hg1913777
hg1813777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563871
SamplesHuRef
Known GenesDDX54
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996809
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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