A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449927



Internal ID14950189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32754471..32754477hg38UCSC Ensembl
Innerchr19:32754456..32754492hg38UCSC Ensembl
Outerchr19:32754450..32754498hg38UCSC Ensembl
chr19:33245377..33245383hg19UCSC Ensembl
Innerchr19:33245362..33245398hg19UCSC Ensembl
Outerchr19:33245356..33245404hg19UCSC Ensembl
chr19:37937217..37937223hg18UCSC Ensembl
Innerchr19:37937238..37937202hg18UCSC Ensembl
Outerchr19:37937196..37937244hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866102
SamplesNA12005
Known GenesTDRD12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449927
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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