A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422488



Internal ID8253271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37710072..38676932hg38UCSC Ensembl
Innerchr12:38103874..39070734hg19UCSC Ensembl
Innerchr12:36390141..37357001hg18UCSC Ensembl
Innerchr12:36390141..37357001hg17UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38966861
hg19966861
hg18966861
hg17966861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161452
SamplesND01678
Known GenesALG10B, CPNE8
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422488
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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