A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161294



Internal ID8252687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9757988..9795475hg38UCSC Ensembl
Innerchr5:9758100..9795587hg19UCSC Ensembl
Innerchr5:9811100..9848587hg18UCSC Ensembl
Innerchr5:9811100..9848587hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3837488
hg1937488
hg1837488
hg1737488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422451
Supporting Variants
SamplesND01570
Known GenesLOC285692
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161294
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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