A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1050363



Internal ID11866802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57732272..57732334hg38UCSC Ensembl
chr18:55399504..55399566hg19UCSC Ensembl
chr18:53550502..53550564hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4192037
SamplesHuRef
Known GenesATP8B1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1050363
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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