A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1593592



Internal ID12410027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80072331..80072331hg38UCSC Ensembl
chr18:77831636..77831636hg19UCSC Ensembl
chr18:75932624..75932624hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4245710
SamplesHuRef
Known GenesRBFADN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1593592
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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