A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4352522



Internal ID11288374
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1347038
Supporting Variants
SamplesHuRef
Known GenesPRKCB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4352522
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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