A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1780993



Internal ID12944111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70740041..70740096hg38UCSC Ensembl
chr11:70586146..70586201hg19UCSC Ensembl
chr11:70263794..70263849hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3598112
SamplesHuRef
Known GenesSHANK2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1780993
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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