A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892218



Internal ID18836352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71803498..71847056hg38UCSC Ensembl
Outerchr12:71785292..71892336hg38UCSC Ensembl
Innerchr12:72197278..72240836hg19UCSC Ensembl
Outerchr12:72179072..72286116hg19UCSC Ensembl
Innerchr12:70483545..70527103hg18UCSC Ensembl
Outerchr12:70465339..70572383hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38107045
hg19107045
hg18107045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789238, essv25792076, essv25788401, essv25789133, essv25791499, essv25790454, essv25787767, essv25791261, essv25788414, essv25787810, essv25788761, essv25788711, essv25792948, essv25789022, essv25789047, essv25788085, essv25789823, essv25789567, essv25792503, essv25792343, essv25787929, essv25791275, essv25791007, essv25790355
Samples
Known GenesMRS2P2, RAB21, TBC1D15
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892218
Frequency
Sample Size3017
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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