A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3332413



Internal ID14832686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76391791..76391801hg38UCSC Ensembl
Innerchr12:76391771..76391821hg38UCSC Ensembl
Outerchr12:76391761..76391831hg38UCSC Ensembl
chr12:76785571..76785581hg19UCSC Ensembl
Innerchr12:76785551..76785601hg19UCSC Ensembl
Outerchr12:76785541..76785611hg19UCSC Ensembl
chr12:75309702..75309712hg18UCSC Ensembl
Innerchr12:75309732..75309682hg18UCSC Ensembl
Outerchr12:75309672..75309742hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865600
SamplesNA12005
Known GenesOSBPL8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3332413
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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