A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422238



Internal ID8253021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:73101436..73238808hg38UCSC Ensembl
Innerchr18:70768671..70906043hg19UCSC Ensembl
Innerchr18:68919651..69057023hg18UCSC Ensembl
Innerchr18:68919651..69057023hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38137373
hg19137373
hg18137373
hg17137373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161371
SamplesND00709
Known GenesLOC400655
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422238
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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