A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892231



Internal ID18836365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81076082..81120636hg38UCSC Ensembl
Outerchr12:81076082..81120636hg38UCSC Ensembl
Innerchr12:81469861..81514415hg19UCSC Ensembl
Outerchr12:81469861..81514415hg19UCSC Ensembl
Innerchr12:79993992..80038546hg18UCSC Ensembl
Outerchr12:79993992..80038546hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3844555
hg1944555
hg1844555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787906
Samples
Known GenesACSS3
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892231
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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