A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422245



Internal ID8253028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:7867712..8417369hg38UCSC Ensembl
Innerchr2:8007843..8557499hg19UCSC Ensembl
Innerchr2:7925294..8474950hg18UCSC Ensembl
Innerchr2:7958441..8508097hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38549658
hg19549657
hg18549657
hg17549657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161351
SamplesND01702
Known GenesLINC00298, LINC00299
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422245
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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