A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585476



Internal ID347055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93470707..93470804hg38UCSC Ensembl
Outerchr12:93470612..93470819hg38UCSC Ensembl
Innerchr12:93864483..93864580hg19UCSC Ensembl
Outerchr12:93864388..93864595hg19UCSC Ensembl
Innerchr12:92388614..92388711hg18UCSC Ensembl
Outerchr12:92388519..92388726hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275262
Supporting Variants
Samples
Known GenesMRPL42
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585476
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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