A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993042



Internal ID6729003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54183042..54193948hg38UCSC Ensembl
Outerchr18:51709412..51720318hg19UCSC Ensembl
Outerchr18:49963410..49974316hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3810907
hg1910907
hg1810907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565112
SamplesHuRef
Known GenesMBD2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993042
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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