A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665790



Internal ID9585209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2222418..2223019hg38UCSC Ensembl
Outerchr12:2222381..2223069hg38UCSC Ensembl
Innerchr12:2331584..2332185hg19UCSC Ensembl
Outerchr12:2331547..2332235hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38689
hg19689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5523355
SamplesNA19904
Known GenesCACNA1C, CACNA1C-AS4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665790
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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