A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688558



Internal ID15012811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117125564..117129562hg38UCSC Ensembl
Innerchr12:117126564..117128562hg38UCSC Ensembl
Outerchr12:117124564..117130562hg38UCSC Ensembl
chr12:117563369..117567367hg19UCSC Ensembl
Innerchr12:117564369..117566367hg19UCSC Ensembl
Outerchr12:117562369..117568367hg19UCSC Ensembl
chr12:116047752..116051750hg18UCSC Ensembl
Innerchr12:116048752..116050750hg18UCSC Ensembl
Outerchr12:116046752..116052750hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg383999
hg193999
hg183999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3415031
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688558
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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