A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161383



Internal ID7906097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:104561148..104734101hg38UCSC Ensembl
Innerchr8:105573376..105746329hg19UCSC Ensembl
Innerchr8:105642552..105815505hg18UCSC Ensembl
Innerchr8:105642552..105815505hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38172954
hg19172954
hg18172954
hg17172954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422460
Supporting Variants
SamplesND04017
Known GenesLRP12
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161383
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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