A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161440



Internal ID8252663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:118107111..118552215hg38UCSC Ensembl
Innerchr5:117442806..117887910hg19UCSC Ensembl
Innerchr5:117470705..117915809hg18UCSC Ensembl
Innerchr5:117470705..117915809hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38445105
hg19445105
hg18445105
hg17445105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422395
Supporting Variants
SamplesND01277
Known GenesLOC100505811, LOC101927280, LOC102467224
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161440
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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