A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1518773



Internal ID12335209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51790814..51790814hg38UCSC Ensembl
chr8:52703374..52703374hg19UCSC Ensembl
chr8:52865927..52865927hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg382425
hg192425
hg182425
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3721671
SamplesHuRef
Known GenesPXDNL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1518773
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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