A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422412



Internal ID7906509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:79234377..81254205hg38UCSC Ensembl
Innerchr3:79283527..81303356hg19UCSC Ensembl
Innerchr3:79366217..81386046hg18UCSC Ensembl
Innerchr3:79366217..81386046hg17UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg382019829
hg192019830
hg182019830
hg172019830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161546
SamplesND01493
Known GenesROBO1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422412
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer