A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787906



Internal ID18826640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:81076082..81120636hg38UCSC Ensembl
Innerchr12:81469861..81514415hg19UCSC Ensembl
Innerchr12:79993992..80038546hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3844555
hg1944555
hg1844555
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892231
Supporting Variants
Samples
Known GenesACSS3
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787906
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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