A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006100



Internal ID7071194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:53965965..53966052hg38UCSC Ensembl
chr10:55725725..55725812hg19UCSC Ensembl
chr10:55395731..55395818hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14e180
Supporting Variantsessv3576811
SamplesHuRef
Known GenesPCDH15
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006100
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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