A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3554962



Internal ID18409352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2876502..2876642hg38UCSC Ensembl
Outerchr18:2876495..2876643hg38UCSC Ensembl
Innerchr18:2876500..2876640hg19UCSC Ensembl
Outerchr18:2876493..2876641hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753709
Samples
Known GenesEMILIN2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3554962
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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