A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892244



Internal ID19183064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:89734878..89853774hg38UCSC Ensembl
Outerchr12:89734878..89853774hg38UCSC Ensembl
Innerchr12:90128655..90247551hg19UCSC Ensembl
Outerchr12:90128655..90247551hg19UCSC Ensembl
Innerchr12:88652786..88771682hg18UCSC Ensembl
Outerchr12:88652786..88771682hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38118897
hg19118897
hg18118897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788594
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892244
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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