A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161291



Internal ID8252772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60206473..60348824hg38UCSC Ensembl
Innerchr3:60192201..60334555hg19UCSC Ensembl
Innerchr3:60167241..60309595hg18UCSC Ensembl
Innerchr3:60167241..60309595hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38142352
hg19142355
hg18142355
hg17142355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422232
Supporting Variants
SamplesND02645
Known GenesFHIT
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161291
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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