A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161467



Internal ID7906181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:169636158..169875084hg38UCSC Ensembl
Innerchr3:169353946..169592872hg19UCSC Ensembl
Innerchr3:170836640..171075566hg18UCSC Ensembl
Innerchr3:170836648..171075574hg17UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38238927
hg19238927
hg18238927
hg17238927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422204
Supporting Variants
SamplesND03834
Known GenesACTRT3, LRRC31, LRRC34, LRRIQ4, MECOM, MYNN, TERC
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161467
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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