A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275119



Internal ID1339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59779230..59780097hg38UCSC Ensembl
Outerchr12:59776106..59782798hg38UCSC Ensembl
Innerchr12:60173011..60173878hg19UCSC Ensembl
Outerchr12:60169887..60176579hg19UCSC Ensembl
Innerchr12:58459278..58460145hg18UCSC Ensembl
Outerchr12:58456154..58462846hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg386693
hg196693
hg186693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586004
Samples
Known GenesSLC16A7
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275119
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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