A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564404



Internal ID7035504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:74422735..74465401hg38UCSC Ensembl
Outerchr18:72089970..72132636hg19UCSC Ensembl
Outerchr18:70240950..70283616hg18UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3842667
hg1942667
hg1842667
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000434
Supporting Variants
SamplesHuRef
Known GenesFAM69C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564404
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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