A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892209



Internal ID19183029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66943032..67104750hg38UCSC Ensembl
Outerchr12:66943032..67192264hg38UCSC Ensembl
Innerchr12:67336812..67498530hg19UCSC Ensembl
Outerchr12:67336812..67586044hg19UCSC Ensembl
Innerchr12:65623079..65784797hg18UCSC Ensembl
Outerchr12:65623079..65872311hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38249233
hg19249233
hg18249233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788874, essv25790615, essv25789171, essv25791232, essv25788866
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892209
Frequency
Sample Size3017
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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