A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309167



Internal ID14809430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1784775..1784776hg38UCSC Ensembl
Innerchr12:1784753..1784798hg38UCSC Ensembl
Outerchr12:1784752..1784799hg38UCSC Ensembl
chr12:1893941..1893942hg19UCSC Ensembl
Innerchr12:1893919..1893964hg19UCSC Ensembl
Outerchr12:1893918..1893965hg19UCSC Ensembl
chr12:1764202..1764203hg18UCSC Ensembl
Innerchr12:1764225..1764180hg18UCSC Ensembl
Outerchr12:1764179..1764226hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839431
SamplesNA12878
Known GenesADIPOR2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309167
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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