A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892125



Internal ID18839835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2143757hg38UCSC Ensembl
Outerchr12:2136470..2143758hg38UCSC Ensembl
Innerchr12:2245636..2252923hg19UCSC Ensembl
Outerchr12:2245636..2252924hg19UCSC Ensembl
Innerchr12:2115897..2123184hg18UCSC Ensembl
Outerchr12:2115897..2123185hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387289
hg197289
hg187289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25795580, essv25797389, essv25798011, essv25783041
Samples
Known GenesCACNA1C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892125
Frequency
Sample Size3017
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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