A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1134300



Internal ID11950737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80072342..80072342hg38UCSC Ensembl
chr18:77831647..77831647hg19UCSC Ensembl
chr18:75932635..75932635hg18UCSC Ensembl
Cytoband18q23
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 Variantsessv3930520
SamplesHuRef
Known GenesRBFADN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1134300
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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