A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394643



Internal ID14894922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101890476..101890476hg38UCSC Ensembl
Innerchr12:101890475..101890477hg38UCSC Ensembl
Outerchr12:101890416..101890526hg38UCSC Ensembl
chr12:102284254..102284254hg19UCSC Ensembl
Innerchr12:102284253..102284255hg19UCSC Ensembl
Outerchr12:102284194..102284304hg19UCSC Ensembl
chr12:100808385..100808385hg18UCSC Ensembl
Innerchr12:100808386..100808384hg18UCSC Ensembl
Outerchr12:100808325..100808435hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8814450
SamplesNA19240
Known GenesDRAM1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394643
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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