A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000474



Internal ID7065604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9923260..9923354hg38UCSC Ensembl
chr18:9923257..9923351hg19UCSC Ensembl
chr18:9913257..9913351hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3895
hg1995
hg1895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572246
SamplesHuRef
Known GenesVAPA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000474
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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