A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1788273



Internal ID12604705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57678689..57679012hg38UCSC Ensembl
chr18:55345921..55346244hg19UCSC Ensembl
chr18:53496919..53497242hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38324
hg19324
hg18324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4345056
SamplesHuRef
Known GenesATP8B1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1788273
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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