A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5414098



Internal ID9680736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68628597..68639399hg38UCSC Ensembl
chr12:69022377..69033179hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3810803
hg1910803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669961
Supporting Variants
SamplesNA19431
Known GenesRAP1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5414098
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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