A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892262



Internal ID18836396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103729765..103815090hg38UCSC Ensembl
Outerchr12:103705376..103817662hg38UCSC Ensembl
Innerchr12:104123543..104208868hg19UCSC Ensembl
Outerchr12:104099154..104211440hg19UCSC Ensembl
Innerchr12:102647673..102732998hg18UCSC Ensembl
Outerchr12:102623284..102735570hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38112287
hg19112287
hg18112287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25793075, essv25790274
Samples
Known GenesNT5DC3, STAB2
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892262
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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