A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996415



Internal ID7080610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:789929..790082hg38UCSC Ensembl
chr4:783717..783870hg19UCSC Ensembl
chr4:773717..773870hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38154
hg19154
hg18154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3566269
SamplesHuRef
Known GenesCPLX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996415
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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