A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378768



Internal ID14879039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49877602..49881100hg38UCSC Ensembl
Innerchr12:49878602..49880100hg38UCSC Ensembl
Outerchr12:49876602..49882100hg38UCSC Ensembl
chr12:50271385..50274883hg19UCSC Ensembl
Innerchr12:50272385..50273883hg19UCSC Ensembl
Outerchr12:50270385..50275883hg19UCSC Ensembl
chr12:48557652..48561150hg18UCSC Ensembl
Innerchr12:48558652..48560150hg18UCSC Ensembl
Outerchr12:48556652..48562150hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383499
hg193499
hg183499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv820e59
Supporting Variantsessv8688726
SamplesNA19240
Known GenesFAIM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378768
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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