A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892121



Internal ID18839831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:411781..525945hg38UCSC Ensembl
Outerchr12:386051..528197hg38UCSC Ensembl
Innerchr12:520947..635111hg19UCSC Ensembl
Outerchr12:495217..637363hg19UCSC Ensembl
Innerchr12:391208..505372hg18UCSC Ensembl
Outerchr12:365478..507624hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38142147
hg19142147
hg18142147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791715, essv25792297
Samples
Known GenesB4GALNT3, CCDC77, KDM5A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892121
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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