A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391809



Internal ID14892088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1784781..1784800hg38UCSC Ensembl
Innerchr12:1784777..1784804hg38UCSC Ensembl
Outerchr12:1784758..1784823hg38UCSC Ensembl
chr12:1893947..1893966hg19UCSC Ensembl
Innerchr12:1893943..1893970hg19UCSC Ensembl
Outerchr12:1893924..1893989hg19UCSC Ensembl
chr12:1764208..1764227hg18UCSC Ensembl
Innerchr12:1764231..1764204hg18UCSC Ensembl
Outerchr12:1764185..1764250hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677837
SamplesNA12878
Known GenesADIPOR2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391809
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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