A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161474



Internal ID8252924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:85144300..85397404hg38UCSC Ensembl
Innerchr13:85718435..85971539hg19UCSC Ensembl
Innerchr13:84616436..84869540hg18UCSC Ensembl
Innerchr13:84616436..84869540hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38253105
hg19253105
hg18253105
hg17253105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422250
Supporting Variants
SamplesND04946
Known GenesLINC00351
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161474
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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