A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1056624



Internal ID11873063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79357356..79357356hg38UCSC Ensembl
chr18:77117356..77117356hg19UCSC Ensembl
chr18:75218344..75218344hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38124
hg19124
hg18124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4265161
SamplesHuRef
Known GenesATP9B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1056624
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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