A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275262



Internal ID348168
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585476, essv2585691
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)esv275262
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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