A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1311797



Internal ID12128233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51858419..51858419hg38UCSC Ensembl
chr10:53618179..53618179hg19UCSC Ensembl
chr10:53288185..53288185hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38187
hg19187
hg18187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4356438
SamplesHuRef
Known GenesPRKG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1311797
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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