A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5865686



Internal ID9496355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128189175..128189318hg38UCSC Ensembl
Outerchr12:128189112..128189406hg38UCSC Ensembl
Innerchr12:128673720..128673863hg19UCSC Ensembl
Outerchr12:128673657..128673951hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659813
Supporting Variants
SamplesNA18973
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5865686
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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