A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688647



Internal ID15013335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133142393..133159991hg38UCSC Ensembl
Innerchr12:133143393..133158991hg38UCSC Ensembl
Outerchr12:133141393..133160991hg38UCSC Ensembl
chr12:133718979..133736577hg19UCSC Ensembl
Innerchr12:133719979..133735577hg19UCSC Ensembl
Outerchr12:133717979..133737577hg19UCSC Ensembl
chr12:132229052..132246650hg18UCSC Ensembl
Innerchr12:132230052..132245650hg18UCSC Ensembl
Outerchr12:132228052..132247650hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3817599
hg1917599
hg1817599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3350439
Supporting Variants
SamplesNA19238
Known GenesZNF10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688647
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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