A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422499



Internal ID7906596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:4745194..5072988hg38UCSC Ensembl
Innerchr6:4745428..5073222hg19UCSC Ensembl
Innerchr6:4690427..5018221hg18UCSC Ensembl
Innerchr6:4690427..5018221hg17UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38327795
hg19327795
hg18327795
hg17327795
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161400
SamplesND01582
Known GenesCDYL, RPP40
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422499
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