A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400714



Internal ID15247677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19200223..19200242hg38UCSC Ensembl
Innerchr20:19200219..19200246hg38UCSC Ensembl
Outerchr20:19200200..19200265hg38UCSC Ensembl
chr20:19180867..19180886hg19UCSC Ensembl
Innerchr20:19180863..19180890hg19UCSC Ensembl
Outerchr20:19180844..19180909hg19UCSC Ensembl
chr20:19128867..19128886hg18UCSC Ensembl
Innerchr20:19128890..19128863hg18UCSC Ensembl
Outerchr20:19128844..19128909hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9678836
SamplesNA19141
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400714
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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