A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1347038



Internal ID12163474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23853979..23853979hg38UCSC Ensembl
chr16:23865300..23865300hg19UCSC Ensembl
chr16:23772801..23772801hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38330
hg19330
hg18330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4352522
SamplesHuRef
Known GenesPRKCB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1347038
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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