A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1119288



Internal ID11935725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79246122..79246196hg38UCSC Ensembl
chr18:77006122..77006196hg19UCSC Ensembl
chr18:75107110..75107184hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3773007
SamplesHuRef
Known GenesATP9B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1119288
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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