A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391077



Internal ID14891358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:60001..76950hg38UCSC Ensembl
Innerchr19:60952..75950hg38UCSC Ensembl
Outerchr19:60001..77950hg38UCSC Ensembl
chr19:60001..76950hg19UCSC Ensembl
Innerchr19:60952..75950hg19UCSC Ensembl
Outerchr19:60001..77950hg19UCSC Ensembl
chr19:10952..27950hg18UCSC Ensembl
Innerchr19:11952..26950hg18UCSC Ensembl
Outerchr19:9952..28950hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3816950
hg1916950
hg1816999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1956e59
Supporting Variantsessv8691396
SamplesNA12892
Known GenesFAM138A, FAM138F, WASH5P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391077
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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